研究活動情報

• 2023年10月 The 22nd Congress of the Federation of Asia and Oceania Perinatal Societies, Best Congress Awards, Influence of genetic variants on unbound bilirubin levels in Japanese newborns: a preliminary study

  Hiroaki Hanafusa


• 2023年05月 第65回日本小児神経学会学術集会 若手優秀演題賞 一般口演

  国内学会・会議・シンポジウム等の賞

• Postzygotic NRAS Variants and Subsequent Copy-Neutral Loss of Heterozygosity Underlie Speckled-Pattern Formation in Nevus Spilus–Type Congenital Melanocytic Nevus

  Kana Ueda, Ai Yoshioka, Harumi Fujita, Satomi Aoki, Hisato Suzuki, Yoshihiro Ito, Kensuke Hara, Hiroaki Hanafusa, Tomoko Kawai, Masayuki Amagai, Kazuhiko Nakabayashi, Akiharu Kubo

  2026年09月, Journal of Investigative Dermatology

  研究論文（学術雑誌）


• Genetic Screening of Patients With Inherited Fanconi Syndrome.

  Yuta Inoki, Nana Sakakibara, Asahi Yamamoto, Yuka Kimura, Shuhei Aoyama, Atsushi Kondo, Hiroaki Hanafusa, Tomoko Horinouchi, Tomohiko Yamamura, China Nagano, Shingo Ishimori, Shinya Asato, Akihiro Fukuda, Shun Hashimoto, Tsubasa Murase, Koji Nagatani, Izaya Nakaya, Takayuki Okamoto, Shunsuke Takayanagi, Hiroshi Tanaka, Koji Tsugawa, Tatsuo Tsukamoto, Takeshi Yamada, Masaki Yamamoto, Kandai Nozu

  INTRODUCTION: The clinical and genetic spectrum of inherited Fanconi renotubular syndrome (FRTS) remains incompletely characterized, and the role of recently recognized genes such as GATM has not been systematically assessed. METHODS: This retrospective study included 20 families with FRTS (14 pediatric and 6 adult index cases) who underwent targeted panel sequencing between 2016 and 2024. The variant spectrum and clinical characteristics were evaluated. Previously reported cases were reviewed to elucidate the phenotypic spectrum and renal prognosis in patients with GATM variants. RESULTS: Pathogenic variants were identified in 13 of 20 index cases (65%; 4 pediatric, 9 adult cases). Disease-causing genes detected included GATM (n = 7), CLCN5 (n = 2), HNF4A (n = 1), BCS1L (n = 1), CTNS (n = 1), and EHHADH (n = 1). Notably, 4 of the 7 GATM variants were completely novel, and 2 others were first reported by our group. The review, incorporating our cases, revealed that patients with GATM variants frequently exhibited incomplete FRTS, expanding the known clinical spectrum. Kidney function exhibited progressive decline, with combined analyses of our cohort and published cases indicating a median kidney survival age of 51.9 years, establishing GATM-associated FRTS as progressive tubulopathy. CONCLUSION: Over half of the patients with primary FRTS displayed detectable monogenic etiologies, with GATM variants being unexpectedly prevalent. Our findings provide new insights into the genetic and clinical spectrum of FRTS with GATM variants, highlighting its under-recognition, phenotypic variability, and progressive kidney dysfunction. GATM variants should be considered in patients with incomplete proximal tubular abnormalities or unexplained chronic kidney disease (CKD).

  2026年07月, Kidney international reports, 11(7) (7), 106576 - 106576, 英語, 国際誌

  研究論文（学術雑誌）

  神戸大学リポジトリ（Kernel）へのリンク


• Sebaceous Nevus Harboring an HRAS p.Ala11_Gly12dup Variant.

  Shinya Hashimoto, Ai Yoshioka, Hiroaki Hanafusa, Akiharu Kubo

  2026年06月, The Journal of dermatology, 英語, 国際誌


• A novel splice site variant in TIMM8A induced abnormal mRNA splicing resulting in Mohr-Tranebjaerg syndrome.

  Hiroaki Hanafusa, Yusuke Ishida, Ryosuke Bo, Masahiro Nishiyama, Kandai Nozu, Hiroaki Nagase, Hiroyuki Awano

  BACKGROUND: Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative disorder caused by pathogenic variants in TIMM8A. Of the 39 previously reported disease-causing variants in the TIMM8A, five are splice site variants; however, none of these variants have been evaluated by transcript analysis. METHODS: We performed panel-based targeted exome analysis in a Japanese boy with sensorineural hearing loss and rapidly progressive dystonia. To assess the effect of the identified splice donor site variant, transcript analysis was performed using RNA derived from peripheral blood. RESULT: A novel hemizygous splice donor site variant in TIMM8A (NM_004085.4:c.132+5G>A) was identified. Transcript analysis revealed three aberrant transcripts: two transcripts with partial intron 1 inclusion of 606 bp or 492 bp (INS606bp and INS492bp) and one transcript with a 60 bp partial deletion of exon 1 (Δ60bp), with no detectable normal transcript. Both INS606bp and INS492bp transcripts contain premature stop codons due to the inserted intronic sequences, leading to the loss of 53 amino acids, whereas the Δ60bp transcript leads to the loss of 20 amino acids. All aberrant transcripts lacked part of the Tim10/DDP family zinc finger domain, which is essential for TIM8A function. CONCLUSION: This study provides the first transcript analysis elucidating the pathogenic mechanism of a splice donor site variant in TIMM8A. The findings suggest that splice donor site variants may share a common disease mechanism involving the production of functionally defective TIM8A protein.

  2026年03月, Brain & development, 48(3) (3), 104525 - 104525, 英語, 国際誌

  研究論文（学術雑誌）


• Clinical characteristics of patients with SALL1-related disorder.

  Yoshitaka Asagai, Yu Tanaka, Hiroaki Hanafusa, China Nagano, Tomoko Horinouchi, Shingo Ishimori, Hiroshi Kaito, Kazumoto Iijima, Kandai Nozu, Naoya Morisada

  BACKGROUND: The Spalt-like transcription factor 1 (SALL1) gene is essential for kidney development. Pathogenic SALL1 variants cause Townes-Brocks syndrome 1 (TBS1), which typically presents with imperforate anus, dysplastic ears, and digital anomalies. However, clinical features vary widely. Some patients present only with dysplastic ears and hearing loss (HL) or with congenital anomalies of the kidney and urinary tract (CAKUT), resembling branchio-oto-renal syndrome (BORS), a presentation referred to as Townes-Brocks branchio-oto-renal-like (TBS BOR-like) syndrome. In this study, we aimed to describe the clinical characteristics of patients with SALL1-related disorders in the Japanese population. METHODS: We analyzed phenotypes of a nationwide cohort comprising 1108 families with chronic kidney disease (CKD) or mild urinary anomalies, using genetic testing conducted from 2010 to 2024. RESULTS: We identified SALL1 variants in 14 families (20 individuals): seven frameshift, four nonsense, one missense, one exon 2 deletion, and one whole-gene deletion. Ten variants were novel. The median age at diagnosis was 16 years (male:female = 13:7). Dysplastic ears were observed in 45%, HL in 40%, digital anomalies in 40%, and anorectal malformations in 25%. Based on clinical features, eight individuals were diagnosed with TBS1, four with TBS BOR-like syndrome, and seven with non-syndromic CAKUT. One case lacked detailed clinical data. Most variants were truncating and located in exon 2. CONCLUSIONS: SALL1-related disorders exhibit broad phenotypic variability. Some cases present with atypical features overlapping with TBS BOR-like syndrome or isolated CAKUT, rather than with typical TBS1. These findings enhance the understanding and diagnosis of SALL1-related disorders.

  2025年11月, Pediatric nephrology (Berlin, Germany), 40(11) (11), 3407 - 3414, 英語, 国際誌

  研究論文（学術雑誌）

  神戸大学リポジトリ（Kernel）へのリンク


• The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing.

  Haruka Nozaki, Nana Sakakibara, Hiroaki Hanafusa, Yuta Inoki, Yu Tanaka, Hideaki Kitakado, Chika Ueda, China Nagano, Tomoko Horinouchi, Tomohiko Yamamura, Shingo Ishimori, Hiroshi Yamaguchi, Kandai Nozu, Naoya Morisada

  BACKGROUND: Cases of unexplained neurodevelopmental disorder (NDD) are often accompanied by multiple congenital anomalies. With recent advances in genetic analysis technology, whole-exome sequencing (WES) has become a powerful diagnostic tool for unexplained NDD patients, but variants of unknown significance are sometimes detected in them. METHODS: WES identified a variant in a 2-year-old boy with NDD associated with multiple congenital anomalies who had no abnormal findings in G-banding and array comparative genomic hybridization (array CGH). mRNA analysis was performed on the variant using the patient's peripheral blood leukocytes following in silico analysis to confirm its effect on splicing. RESULTS: WES revealed a novel homozygous single base substituting variant of unknown significance (VUS), which was carried heterozygously by the patient's parents (DCPS, NM_014026.6: c.200A>G, p.(Lys67Arg)). In silico analysis predicted that this variant may cause aberrant splicing, and mRNA analysis revealed a 48-bp deletion from the 3' end of exon 1. Biallelic variants of DCPS are known to cause Al-Raqad syndrome, a quite rare disorder which presents NDD with multiple malformations. This disease has been reported in only eight individuals from five Middle Eastern or Caucasian families but never in the Japanese but the symptoms of the present case were similar to reported cases of this syndrome. DISCUSSION: We successfully diagnosed a case of unexplained NDD as Al-Raqad syndrome by WES along with mRNA analysis. Single base substitution with judged VUS can be pathogenic by causing aberrant splicing and, therefore, in silico analysis and subsequent RNA sequence are necessary to prove its pathogenicity.

  2025年05月, Brain & development, 47(4) (4), 104366 - 104366, 英語, 国際誌

  研究論文（学術雑誌）

  神戸大学リポジトリ（Kernel）へのリンク


• Total Intramuscular Fat Fraction of Thigh Muscles as a Predictor of Nusinersen Efficacy in Pediatric SMA Type II and III

  Kiiko Iketani, Hiroyuki Awano, Hiromi Hashimura, Shoko Sonehara, Hiroaki Hanafusa, Yoshinori Nambu, Hisahide Nishio, Kandai Nozu, Ryosuke Bo

  Background/Objectives: Nusinersen is a disease-modifying drug for spinal muscular atrophy (SMA) that improves motor function. However, its effects on the skeletal muscles remain unclear. This study aimed to assess the intramuscular fat fraction in patients with SMA types II and III using muscle magnetic resonance imaging (MRI) and to explore the relationship between muscle tissue, lipid metabolism, and motor function during nusinersen treatment. Methods: This study included seven pediatric patients with SMA types II and III who received nusinersen treatment. Muscle MRIs were performed at three time points. Images of the central thigh were used to measure the cross-sectional area (CSA) and muscle fat area, and the intramuscular fat fraction (IMFF) was calculated. The thigh muscles were categorized into three groups: quadriceps, adductor, and hamstrings. Results: The median (range) of total IMFF for SMA type II and III at T-0, T-2, and T-4 were 18.5 (12.6-48.4), 24.4 (10.1-61.4), and 39.0 (30.0-68.6) % and increased over time. In five patients whose motor function was evaluated, a moderate negative correlation was observed between the changes in the Hammersmith Functional Motor Score Expanded (HSFME) and IMFF (r = -0.51). No significant changes in serum triglyceride or total cholesterol levels were observed during treatment. Conclusions: An increase in IMFF was associated with a decline in motor function. The baseline IMFF score was related to improvements in motor function scores, suggesting that the IMFF of the thigh muscle may serve as a novel, objective, and quantitative skeletal muscle-related biomarker for predicting the effects of nusinersen on muscle tissue.

  2025年03月, Diagnostics, 15(6) (6), 英語, 国際誌

  研究論文（学術雑誌）


• Epidemiology of SARS-CoV-2 Infection in Patients with Neuromuscular Disease and Inborn Errors of Metabolism: A Cross-sectional Study for a Pediatric Outpatient Referral in Japan.

  Sungwon Hong, Kiiko Iketani, Shoko Sonehara, Hiroaki Hanafusa, Yoshinori Nambu, Kandai Nozu, Hiroyuki Awano, Ryosuke Bo

  The coronavirus disease 2019 (COVID-19) pandemic has affected people worldwide, and pediatric patients with underlying diseases are at high risk of developing severe COVID-19. However, there are limited reports on the clinical impact of COVID-19, especially in patients with underlying neuromuscular diseases (NMD) and inborn errors of metabolism (IEM). This study aimed to investigate the incidence and clinical presentation of COVID-19 in patients with NMD and IEM. This was a single-center, cross-sectional study of patients with NMD and IEM in Japan for 2 years, from April 1, 2020 to March 31, 2022. Among 255 participants with a median age of 14 (range: 0-50) years, 192 (75%) and 63 (25%) had NMD and IEM, respectively. Among 255 patients, 8 (5 NMD and 3 IEM) were positive for the anti-severe acute respiratory syndrome coronavirus 2 nucleocapsid antibody, and the incidence was considered 3%. All positive patients had mild or asymptomatic COVID-19. None of the patients exhibited moderate or severe symptoms. In conclusion, this study revealed that the incidence of COVID-19 was low, and mild or subclinical infection was common even in patients with NMD and IEM, who may be at a higher risk of severe COVID-19.

  2025年02月, The Kobe journal of medical sciences, 70(4) (4), E106-E112, 英語, 国内誌

  研究論文（学術雑誌）

  神戸大学リポジトリ（Kernel）へのリンク


• Identification of Genetic Variants in Status Epilepticus Associated With Fever.

  Hiroaki Hanafusa, Hiroshi Yamaguchi, Naoya Morisada, Ming Juan Ye, Shizuka Oikawa, Shoichi Tokumoto, Masahiro Nishiyama, Kandai Nozu, Hiroaki Nagase

  PURPOSE: Status epilepticus associated with fever (SEF) is often encountered in pediatric emergency departments, and some patients develop neurological emergencies, such as acute encephalopathy (AE). Although numerous genetic variants of developmental and epileptic encephalopathy (DEE) have been reported, the frequency of these disease-associated variants of SEF is unknown. The first aim of this study was to investigate the associated genetic variants of SEF. The second aim was to compare the variations in genes between SEF and DEE. METHOD: This retrospective, clinical observational study included patients with SEF or DEE who visited Kobe University Hospital or Kobe University affiliated hospitals and provided consent for a genetic diagnosis of SEF or DEE between January 1, 2021, and December 31, 2022. FINDING: Fifteen patients with SEF and 27 patients with DEE consented to a genetic diagnosis and were included in the study. The detection rate of genetic variants was lower in patients with SEF (26.7%) than in those with DEE (63.0%), although there is no statistically significant difference (p = 0.05, Fisher's exact test). Analysis of patients with DEE revealed a wide variety of causative genes for DEE (16 different genes), whereas in SEF cases, only SCN1A variants were detected. CONCLUSION: Our study is the first to clarify the detection rates of different genetic variants in SEF. Patients with SEF may have less genetic involvement in the onset of epileptic seizures, compared to those with DEE.

  2025年02月, Brain and behavior, 15(2) (2), e70279, 英語, 国際誌

  研究論文（学術雑誌）

  神戸大学リポジトリ（Kernel）へのリンク


• Fructose-1,6-bisphosphatase deficiency presenting with neonatal hyperlactatemia and elevated lactate-to-pyruvate ratio.

  Sanae Naito, Sachiyo Fukushima, Hiroaki Hanafusa, Tomoaki Ioroi, Hiroyuki Awano, Kandai Nozu, Ryosuke Bo

  2025年, Pediatrics international : official journal of the Japan Pediatric Society, 67(1) (1), e70267, 英語, 国際誌

  研究論文（学術雑誌）


• 兵庫県/神戸市の拡大新生児マススクリーニングにおけるポンペ病精密検査例の遺伝学的背景と酵素活性の検討

  曽根原 晶子, 大橋 浩基, 松井 美樹, 花房 宏昭, 南部 静紀, 李 知子, 粟野 宏之, 竹島 泰弘, 野津 寛大, 坊 亮輔

  (一社)日本マススクリーニング学会, 2024年07月, 日本マス・スクリーニング学会誌, 34(2) (2), 209 - 209, 日本語


• 3歳時の朝食習慣と小学1年生での学力との関連 尼崎市の人口ベースコホート研究

  川村 葵, 西山 将広, 伊藤 立人, 京野 由紀, 鮫島 智大, 花房 宏昭, 老川 静香, 徳元 翔一, 山口 宏, 野津 寛大, 永瀬 裕朗

  (一社)日本小児神経学会, 2024年05月, 脳と発達, 56(Suppl.) (Suppl.), S206 - S206, 日本語


• End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy.

  Hiroaki Hanafusa, Hiroshi Yamaguchi, Naoya Morisada, Ming Juan Ye, Riki Matsumoto, Hiroaki Nagase, Kandai Nozu

  Autosomal dominant polycystic kidney disease (ADPKD) is commonly caused by PKD1, and mosaic PKD1 variants result in milder phenotypes. We present the case of a 32 year-old male with chronic active Epstein-Barr virus who underwent bone marrow transplantation with chemoradiotherapy at age 9. Despite a low-frequency mosaic splicing PKD1 variant, he developed severe renal cysts and end-stage renal disease in his 30 s. This case highlights how environmental factors may contribute to the genetic predisposition to ADPKD.

  2024年03月, Human genome variation, 11(1) (1), 17 - 17, 英語, 国際誌

  研究論文（学術雑誌）

  神戸大学リポジトリ（Kernel）へのリンク


• A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency.

  Naoko Nakatani, Akihiro Tamura, Hiroaki Hanafusa, Nanako Nino, Nobuyuki Yamamoto, Hiroyuki Awano, Yasuhiro Tanaka, Naoya Morisada, Suguru Uemura, Atsuro Saito, Daiichiro Hasegawa, Kandai Nozu, Yoshiyuki Kosaka

  Recently, heterozygous loss-of-function NFKB1 variants were identified as the primary cause of common variable immunodeficiency (CVID) in the European population. However, pathogenic NFKB1 variants have never been reported in the Japanese population. We present a 29-year-old Japanese woman with CVID. A novel variant, c.136 C > T, p.(Gln46*), was identified in NFKB1. Her mother and daughter carried the same variant, demonstrating the first Japanese pedigree with an NFKB1 pathogenic variant.

  2024年03月, Human genome variation, 11(1) (1), 15 - 15, 英語, 国際誌

  研究論文（学術雑誌）

  神戸大学リポジトリ（Kernel）へのリンク


• 意識障害と片麻痺を繰り返した46,XX,der(18)t(12;18)(p11.2;p11.2)

  川村 葵, 山口 宏, 伊藤 立人, 曽根原 晶子, 洪 聖媛, 鮫島 智大, 花房 宏昭, 老川 静香, 徳元 翔一, 坊 亮輔, 永瀬 裕朗

  (一社)日本小児神経学会, 2024年03月, 脳と発達, 56(2) (2), 151 - 151, 日本語


• 持続する右下肢痛で発症した骨肉腫の1例

  伊藤 立人, 川村 葵, 曽根原 晶子, 西村 明紘, 洪 聖媛, 鮫島 智大, 花房 宏昭, 老川 静香, 徳元 翔一, 山口 宏, 坊 亮輔, 山本 暢之, 永瀬 裕朗

  (一社)日本小児神経学会, 2024年03月, 脳と発達, 56(2) (2), 152 - 152, 日本語


• 当院における小児心停止症例に対する遺伝学的診断(Genetic autopsy)を含めた原因究明システムの構築

  松井 鋭, 黒澤 寛史, 花房 宏昭, 洪本 加奈, 坊 亮輔, 森貞 直哉, 吉田 牧子, 笠井 正志, 林 卓郎, 竹井 寛和, 谷澤 直子, 大西 康裕, 大西 理史, 宮脇 康輔, 松本 泰右, 長崎 靖, 田中 亮二郎, 野津 寛大, 飯島 一誠

  (公社)日本小児科学会, 2024年02月, 日本小児科学会雑誌, 128(2) (2), 293 - 293, 日本語


• Lysinuric protein intolerance exhibiting renal tubular acidosis/Fanconi syndrome in a Japanese woman

  Hiroaki Hanafusa, Katsuya Nakamura, Yuji Kamijo, Masashi Kitahara, Takashi Ehara, Tsuneaki Yoshinaga, Kaoru Aoki, Nagaaki Katoh, Tomomi Yamaguchi, Tomoki Kosho, Yoshiki Sekijima

  Abstract Lysinuric protein intolerance (LPI), caused by pathogenic variants of SLC7A7, is characterized by protein aversion, failure to thrive, hyperammonemia, and hepatomegaly. Recent studies have reported that LPI can cause multiple organ dysfunctions, including kidney disease, autoimmune deficiency, pulmonary alveolar proteinosis, and osteoporosis. We report the case of a 47‐year‐old Japanese woman who was initially diagnosed with renal tubular acidosis (RTA), Fanconi syndrome, and rickets. At the age of 3 years, she demonstrated a failure to thrive. Urinary amino acid analysis revealed elevated lysine and arginine levels, which were masked by pan‐amino aciduria. She was subsequently diagnosed with rickets at 5 years of age and RTA/Fanconi syndrome at 15 years of age. She was continuously treated with supplementation of vitamin D3, phosphate, and bicarbonate. A renal biopsy at 18 years of age demonstrated diffuse proximal and distal tubular damage with endocytosis‐lysosome pathway abnormalities. Distinctive symptoms of LPI, such as protein aversion and postprandial hyperammonemia were not observed throughout the patient's clinical course. The patient underwent a panel‐based comprehensive genetic testing and was diagnosed with LPI. As the complications of LPI involve many organs, patients lacking distinctive symptoms may develop various diseases, including RTA/Fanconi syndrome. Our case indicates that proximal and distal tubular damages are notable findings in patients with LPI. The possibility of LPI should be carefully considered in the management of RTA/Fanconi syndrome and/or incomprehensible pathological tubular damage, even in the absence of distinctive symptoms; furthermore, a comprehensive genetic analysis is useful for diagnosing LPI.

  Wiley, 2023年09月, JIMD Reports, 64(6) (6), 410 - 416, 英語, 国際誌

  研究論文（学術雑誌）


• Clinical utility of urinary mulberry bodies/cells testing in the diagnosis of Fabry disease.

  Katsuya Nakamura, Saki Mukai, Yuka Takezawa, Yuika Natori, Akari Miyazaki, Yuichiro Ide, Mayu Takebuchi, Kana Nanato, Mizuki Katoh, Harue Suzuki, Akiko Sakyu, Tomomi Kojima, Emiko Kise, Hiroaki Hanafusa, Tomoki Kosho, Koichiro Kuwahara, Yoshiki Sekijima

  INTRODUCTION: Variants in the galactosidase alpha (GLA) gene cause Fabry disease (FD), an X-linked lysosomal storage disorder caused by α-galactosidase A (α-GAL) deficiency. Recently, disease-modifying therapies have been developed, and simple diagnostic biomarkers for FD are required to initiate these therapies in the early stages of the disease. Detection of urinary mulberry bodies and cells (MBs/MCs) is beneficial for diagnosing FD. However, few studies have evaluated the diagnostic accuracy of urinary MBs/MCs in FD. Herein, we retrospectively evaluated the diagnostic ability of urinary MBs/MCs for FD. METHODS: We analyzed the medical records of 189 consecutive patients (125 males and 64 females) who underwent MBs/MCs testing. Out of these, two female patients had already been diagnosed with FD at the time of testing, and the remaining 187 patients were suspected of having FD and underwent both GLA gene sequencing and/or α-GalA enzymatic testing. RESULTS: Genetic testing did not confirm the diagnosis in 50 females (26.5%); hence, they were excluded from the evaluation. Two patients were previously diagnosed with FD, and sixteen were newly diagnosed. Among these 18 patients, 15, including two who had already developed HCM at diagnosis, remained undiagnosed until targeted genetic screening of at-risk family members of patients with FD was performed. The accuracy of urinary MBs/MCs testing exhibited a sensitivity of 0.944, specificity of 1, positive predictive value of 1, and negative predictive value of 0.992. CONCLUSIONS: MBs/MCs testing is highly accurate in diagnosing FD and should be considered during the initial evaluation prior to genetic testing, particularly in female patients.

  2023年09月, Molecular genetics and metabolism reports, 36, 100983 - 100983, 英語, 国際誌

  研究論文（学術雑誌）


• MSL3領域のヌリソミーで生じたBasilicata-Akhtar症候群の日本人男児例(Basilicata-Akhtar syndrome derived from a nullisomy of the MSL3 region in a Japanese boy)

  花房 宏昭, 森貞 直哉, 長坂 美和子, 叶 明娟, 野口 裕子, 長野 智那, 野津 寛大, 粟野 宏之

  (一社)日本小児神経学会, 2023年07月, 脳と発達, 55(4) (4), 279 - 282, 英語


• MSL3領域のヌリソミーで生じたBasilicata-Akhtar症候群の日本人男児例(Basilicata-Akhtar syndrome derived from a nullisomy of the MSL3 region in a Japanese boy)

  花房 宏昭, 森貞 直哉, 長坂 美和子, 叶 明娟, 野口 裕子, 長野 智那, 野津 寛大, 粟野 宏之

  (一社)日本小児神経学会, 2023年07月, 脳と発達, 55(4) (4), 279 - 282, 英語


• Dravet syndrome and hemorrhagic shock and encephalopathy syndrome associated with an intronic deletion of SCN1A.

  Hiroaki Hanafusa, Hiroshi Yamaguchi, Hidehito Kondo, Miwako Nagasaka, Ming Juan Ye, Shizuka Oikawa, Shoichi Tokumoto, Kazumi Tomioka, Masahiro Nishiyama, Naoya Morisada, Masafumi Matsuo, Kandai Nozu, Hiroaki Nagase

  OBJECTIVE: Hemorrhagic shock and encephalopathy syndrome (HSES) is a serious condition that requires intensive care and is associated with a high mortality rate. However, its pathogenesis remains unclear. In the present study, a genetic analysis was performed to determine the genetic background of patients with clinically suspected Dravet syndrome (DS) who developed HSES. METHODS: Whole exome sequencing was performed, followed by minigene analysis of the intron variant detected by whole exome sequencing to confirm its effect on splicing. RESULTS: Whole exome sequencing revealed a novel 21-bp deletion in intron 3 of SCN1A NM_001165963.4 (NC_000002.11:g.166073675_166073695del). This deletion was not found in the patient's parents and was proven to be de novo. Minigene analysis revealed an aberrant mRNA lacking 40 and 106 bp from the 5' end of exon 4 of SCN1A. Therefore, we diagnosed this case as DS due to the deletion in intron 3 of SCN1A. CONCLUSIONS: We report a case of DS with HSES caused by a 21-bp deletion in the intron of SCN1A that was confirmed by minigene analysis. The present case met Levin's criteria for HSES and the splicing analysis of SCN1A is an important finding. This study has important implications for understanding HSES pathogenesis.

  2023年06月, Brain & development, 45(6) (6), 317 - 323, 英語, 国際誌

  研究論文（学術雑誌）


• Germ-cell-specific transcriptome analysis illuminates the chromatin and ubiquitin pathway in autism spectrum disorders.

  Sawako Furukawa, Jun Nomura, Hiroaki Hanafusa, Hiroko Maegawa, Toru Takumi

  Accumulating epidemiological studies have suggested a positive association between advanced paternal age at conception and the increased risk of neurodevelopmental outcomes such as autism spectrum disorder (ASD) in their children. Recent biological studies using human sperm have identified increased de novo mutations in aged fathers, and hyper- or hypomethylation has been identified in the sperm from aged rodents. Dysregulation of DNA methylation in sperm may explain the transgenerational effects on the pathogenesis of ASD. However, compared to these epigenetic changes in the sperm of aged males, the effects of inherited predisposition from germ cells are largely unknown. Here, we use single-cell transcriptome data sets from 13 cell lines, including 12 ASD-associated CNVs models and control, that are performed neural differentiation from mouse embryonic stem cells. This study performed comprehensive bioinformatic analyses such as gene ontology (GO), network, pathway, and upstream regulator analyses. Through these analyses, we identify several susceptible pathways, such as chromatin and ubiquitin, in addition to translational and oxidative phosphorylation. Our results suggest that dysregulation of epigenetic chromosome remodeling and ubiquitin-proteasome pathway in the germ cell is a possible modulator for subsequent differentiated cells, sperm, and egg, as a risk factor for the neurodevelopmental disorder.

  2023年06月, Autism research : official journal of the International Society for Autism Research, 16(6) (6), 1101 - 1110, 英語, 国際誌

  研究論文（学術雑誌）


• 有熱性てんかん重積・急性脳症に対する疾患関連遺伝子の探索

  山口 宏, 花房 宏昭, 老川 静香, 徳元 翔一, 冨岡 和美, 西山 将広, 森貞 直哉, 野津 寛大, 永瀬 裕朗

  (一社)日本小児神経学会, 2023年05月, 脳と発達, 55(Suppl.) (Suppl.), S318 - S318, 日本語


• 出血性ショック脳症症候群をきたしたDravet症候群にSCN1Aのイントロンに新規の21塩基欠失を認めminigene解析を実施した1例

  花房 宏昭, 山口 宏, 老川 静香, 徳元 翔一, 冨岡 和美, 西山 将広, 長坂 美和子, 近藤 秀仁, 森貞 直哉, 松尾 雅文, 野津 寛大, 永瀬 裕朗

  (一社)日本小児神経学会, 2023年05月, 脳と発達, 55(Suppl.) (Suppl.), S302 - S302, 日本語


• 当院での脳症関連遺伝子パネルを用いた疾患関連遺伝子の同定の試み

  山口 宏, 花房 宏昭, 徳元 翔一, 冨岡 和美, 西山 将広, 森貞 直哉, 野津 寛大, 永瀬 裕朗

  (公社)日本小児科学会, 2023年04月, 日本小児科学会雑誌, 127(4) (4), 628 - 628, 日本語


• Impact after the Change from Voluntary to Universal Oral Rotavirus Vaccination on Consecutive Emergency Department Visits for Acute Gastroenteritis among Children in Kobe City, Japan (2016-2022).

  Hiroshi Yamaguchi, Kandai Nozu, Hiroaki Hanafusa, Yoshinori Nambu, Takumi Kido, Atsushi Kondo, Akihiro Tamura, Hiroyuki Awano, Ichiro Morioka, Hiroaki Nagase, Akihito Ishida

  Rotavirus (RV) is the leading cause of acute gastroenteritis (AGE), particularly in infants. In 2006, the high efficacy of oral RV vaccines (RVVs, RotarixTM and RotaTeqTM) was demonstrated. Voluntary RVV started in Japan in 2011, and in October 2020 were launched as universal oral RVVs in Japan. However, the impact of changes from voluntary to universal RVVs has not been studied in a primary emergency medical center in Japan. We investigated changes in the number of pediatric patients with AGE after introducing universal RVVs in our center. A clinical database of consecutive patients aged <16 who presented to Kobe Children’s Primary Emergency Medical Center between 1 April 2016 and 30 June 2022 was reviewed. After implementing universal RVVs, fewer children presented with RV-associated AGE (the reduction of proportion of the patients in 2022 was −61.7% (all ages), −57.9% (<1 years), −67.8% (1−<3 years), and −61.4% (3−<5 years) compared to 2019). A similar decrease in those of age who were not covered by the universal RVV was observed. There was a significant decline in the number of patients with AGE during the RV season who presented to the emergency department after implementing universal RVVs.

  2022年10月, Vaccines, 10(11) (11), 英語, 国際誌

  研究論文（学術雑誌）

  神戸大学リポジトリ（Kernel）へのリンク


• Influence of UGT1A1 Genetic Variants on Free Bilirubin Levels in Japanese Newborns: A Preliminary Study.

  Hiroaki Hanafusa, Shinya Abe, Shohei Ohyama, Yuki Kyono, Takumi Kido, Ruka Nakasone, Mariko Ashina, Kenji Tanimura, Kandai Nozu, Kazumichi Fujioka

  BACKGROUND: Free bilirubin (Bf) is a better marker than total serum bilirubin (TSB) for predicting bilirubin encephalopathy (BE). To date, two UGT1A1 genetic variants (rs4148323 and rs3064744) have been associated with neonatal hyperbilirubinemia; however, the direct association between UGT1A1 variants and Bf levels in newborns has not been elucidated. METHODS: We retrospectively analyzed the clinical data of 484 infants, including the genotype data of two UGT1A1 genetic variants. We divided the infants into a high Bf group (Bf ≥ 1.0 µg/dL, n = 77) and a non-high Bf group (Bf < 1.0 µg/dL, n = 407), based on the peak Bf values. Logistic regression analysis was performed to calculate the odds ratios (ORs) for each variant allele compared to wild-type alleles. RESULTS: The frequencies of the A allele in rs4148323 and (TA)7 allele in rs3064744 in the high Bf group (29% and 4%, respectively) were significantly different from those in the non-high Bf group (16% and 12%, respectively). In logistic regression analysis, for rs4148323, the A allele was significantly associated with an increased risk of hyper-free bilirubinemia over the G allele (adjusted OR: 1.80, 95% confidence interval [CI]: 1.19-2.72, p < 0.01). However, for rs3064744, the (TA)7 allele was significantly associated with a decreased risk of hyper-free bilirubinemia over the (TA)6 allele (adjusted OR: 0.42, 95% CI: 0.18-0.95, p = 0.04). CONCLUSIONS: This study is the first to show that the A allele in rs4148323 is a risk factor and that the (TA)7 allele in rs3064744 is a protective factor for developing hyper-free bilirubinemia in Japanese newborns.

  2022年10月, International journal of environmental research and public health, 19(20) (20), 英語, 国際誌

  研究論文（学術雑誌）

  神戸大学リポジトリ（Kernel）へのリンク


• てんかん重積状態・急性脳症における疾患原因遺伝子の同定の試み

  山口 宏, 花房 宏昭, 徳元 翔一, 冨岡 和美, 西山 将広, 森貞 直哉, 野津 寛大, 永瀬 裕朗

  (一社)日本てんかん学会, 2022年08月, てんかん研究, 40(2) (2), 410 - 410, 日本語


• Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis.

  Hiroaki Hanafusa, Yoshihiko Hidaka, Tomomi Yamaguchi, Hisashi Shimojo, Takanori Tsukahara, Tsubasa Murase, Daisuke Matsuoka, Nao Chiba, Shun Shimada, Hirokazu Morokawa, Norio Omori, Hironori Minoura, China Nagano, Kyoko Takano, Katsuya Nakamura, Keiko Wakui, Yoshimitsu Fukushima, Takeshi Uehara, Yozo Nakazawa, Kazumoto Iijima, Kandai Nozu, Tomoki Kosho

  Transient receptor potential channel C6 encoded by TRPC6 is involved in slit diaphragm formation in podocytes, and abnormalities of the TRPC6 protein cause various glomerular diseases. The first identified pathogenic variant of TRPC6 was found to cause steroid-resistant nephrotic syndrome that typically developed in adulthood and then slowly led to end-stage renal disease, along with a renal pathology of focal segmental glomerulosclerosis. Here, we report a patient with rapidly progressing infantile nephrotic syndrome and a heterozygous missense TRPC6 variant. The patient, a 2-year-old Japanese boy, developed steroid-resistant nephrotic syndrome at age 11 months. His renal function deteriorated rapidly, and peritoneal dialysis was introduced at age 1 year and 6 months. His renal pathology, obtained at age 1 year and 1 month, was consistent with diffuse mesangial sclerosis (DMS). Clinical exome analysis and custom panel analysis for hereditary renal diseases revealed a reported heterozygous missense variant in TRPC6 (NM_004621.5:c.523C > T:p.Arg175Trp). This is the first report of a patient with a TRPC6-related renal disorder associated with DMS.

  2021年07月, American journal of medical genetics. Part A, 185(7) (7), 2175 - 2179, 英語, 国際誌

  研究論文（学術雑誌）


• A Japanese boy with NAA10-related syndrome and hypertrophic cardiomyopathy.

  Ayumi Shishido, Naoya Morisada, Kenta Tominaga, Hiroyasu Uemura, Akiko Haruna, Hiroaki Hanafusa, Kandai Nozu, Kazumoto Iijima

  NAA10-related syndrome is an extremely rare X-chromosomal disorder, the symptoms of which include intellectual disability (ID), ocular anomalies, or congenital heart diseases, such as hypertrophic cardiomyopathy (HCM). Here, we describe a 4-year-old Japanese male patient who exhibited mild ID, HCM, and specific facial features. A hemizygous mutation (NM_003491.3: c.455_458del, p. Thr152Argfs*6) in exon 7 of NAA10 was detected. We recommend that patients undergo precise medical follow-up considering the characteristics of NAA10-related syndrome.

  2020年, Human genome variation, 7, 23 - 23, 英語, 国際誌

  研究論文（学術雑誌）

  神戸大学リポジトリ（Kernel）へのリンク


• A girl with CLOVES syndrome with a recurrent PIK3CA somatic mutation and pancreatic steatosis.

  Hiroaki Hanafusa, Naoya Morisada, Tadashi Nomura, Daisuke Kobayashi, Yoshinobu Akasaka, Ming Juan Ye, Kandai Nozu, Noriyuki Nishimura, Kazumoto Iijima, Hideto Nakao

  CLOVES syndrome is characterized by congenital lipomatous overgrowth, vascular malformation, epidermal nevi, and scoliosis/spinal malformation. It is caused by somatic mosaicism of gain-of-function variants of PIK3CA. Here, we describe a novel case of a 5-year-old Japanese girl with CLOVES and concurrent pancreatic steatosis. She had a recurrent somatic mutation in PIK3CA (NM_006218.3: c.1357G>A, p.Glu453Lys), elevated HbA1c levels, and pancreatic steatosis. This case indicates that pancreatic screening is critical for PIK3CA-related disorders.

  2019年, Human genome variation, 6, 31 - 31, 英語, 国際誌

  研究論文（学術雑誌）

  神戸大学リポジトリ（Kernel）へのリンク


• The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features.

  Hiroaki Hanafusa, Naoya Morisada, Yusuke Ishida, Ryosuke Sakata, Keiichi Morita, Shizu Miura, Ming Juan Ye, Toshiyuki Yamamoto, Nobuhiko Okamoto, Kandai Nozu, Kazumoto Iijima

  The 20q11.2 microdeletion is a rare chromosomal aberration characterized by intellectual disability (ID), motor developmental delay, neonatal feeding problems, and facial dysmorphism. Here, a 2-year- and 6-month-old Japanese girl with a 1.2 Mb microdeletion of 20q11.2 showed ID, motor developmental delay, and distinctive facial features without feeding problems. The deleted region was identified by array-based comparative genomic hybridization and is the smallest reported for a 20q11.2 microdeletion.

  2017年, Human genome variation, 4, 17050 - 17050, 英語, 国際誌

  研究論文（学術雑誌）

  神戸大学リポジトリ（Kernel）へのリンク

• 横紋筋融解症を主徴とした肢帯型筋ジストロフィーR19例

  南部 静紀, 鴛海 大樹, 花房 宏昭, 坊 亮輔, 白川 卓, 砂見 愛子, 大澤 佳代, 堀口 朋子, 竹内 敦子, 粟野 宏之, 西尾 久英, 伊東 恭子, 松尾 雅文, 野津 寛大

  (公社)日本小児科学会, 2026年02月, 日本小児科学会雑誌, 130(2) (2), 332 - 332, 日本語


• がんゲノムプロファイル検査で検出されたRAD51Dの病的バリアントが血縁者の遺伝学的検査とバリアント保持女性のリスク低減卵管卵巣摘出術に繋がった家系に対する遺伝カウンセリング

  田中 敬子, 花房 宏昭, 菅原 宏美, 澁谷 剛志, 荻本 圭祐, 濱崎 京子, 濱 真奈美, 澤田 優貴, 金原 史朗, 清田 尚臣, 南 博信, 野津 寛大

  (一社)日本遺伝カウンセリング学会, 2025年11月, 日本遺伝カウンセリング学会誌, 46(3) (3), 117 - 123, 日本語


• KID症候群を有する進行下顎歯肉癌に対して下顎再建手術を施行した1例

  竹内 正憲, 玉川 晃太朗, 由井 光子, 四宮 弘隆, 榊原 俊介, 野村 正, 花房 宏昭, 吉岡 愛育, 久保 亮治, 丹生 健一

  (NPO)日本頭頸部外科学会, 2025年10月, 頭頸部外科, 35(2) (2), 257 - 262, 日本語


• TRPV3にミスセンスバリアントを同定したOlmsted症候群の親子例

  西村 誉, 小野 紀子, 齋藤 苑子, 天谷 雅行, 伊東 可寛, 花房 宏昭, 久保 亮治

  (公社)日本皮膚科学会, 2025年09月, 日本皮膚科学会雑誌, 135(10) (10), 2217 - 2217, 日本語


• 【遺伝カウンセリングを学ぼう!】様々な場面での遺伝カウンセリング Marfan症候群

  花房 宏昭

  (株)診断と治療社, 2025年08月, 小児科診療, 88(8) (8), 975 - 979, 日本語


• 遺伝学的検査で診断に至った5例の発達遅滞・多発形態異常がある成人例における遺伝カウンセリング

  澤田 優貴, 花房 宏昭, 田中 敬子, 朝貝 芳貴, 坊 亮輔, 國久 智成, 久保 亮治, 永瀬 裕朗, 野津 寛大

  (一社)日本遺伝カウンセリング学会, 2025年07月, 日本遺伝カウンセリング学会誌, 46(2) (2), 216 - 216, 日本語


• 神戸大学医学部附属病院におけるGoogleカレンダーを活用した臨床遺伝専門医研修支援の取り組み

  田中 敬子, 花房 宏昭, 澤田 優貴, 朝貝 芳貴, 坊 亮輔, 國久 智成, 久保 亮治, 野津 寛大

  (一社)日本遺伝カウンセリング学会, 2025年07月, 日本遺伝カウンセリング学会誌, 46(2) (2), 226 - 226, 日本語


• 浴槽で溺水後に心停止で搬送され死亡後の遺伝子解析でTNNT2関連心筋症が判明した12歳男児例

  松井 鋭, 黒澤 寛史, 花房 宏昭, 豊嶋 大作, 野津 寛大

  (一社)日本蘇生協議会, 2025年07月, J-ReSS, 17, 9 - 9, 日本語


• 小児心停止症例への遺伝学的診断(Genetic autopsy)を含めた原因究明システムの現状と課題

  松井 鋭, 黒澤 寛史, 花房 宏昭, 谷口 真紀, 森貞 直哉, 笠井 正志, 豊嶋 大作, 西山 敦史, 青木 智彩子, 田中 亮二郎, 野津 寛大, 飯島 一誠

  (一社)日本小児救急医学会, 2025年07月, 日本小児救急医学会雑誌, 24(2) (2), 406 - 406, 日本語


• 夏季の食事摂取不良を主訴に来院したAu-Kline症候群(AKS)の女児例

  末宗 和樹, 朝貝 芳貴, 上田 拓耶, 鮫島 智大, 花房 宏昭, 老川 静香, 徳元 翔一, 山口 宏, 永瀬 裕朗

  (一社)日本小児神経学会, 2025年03月, 脳と発達, 57(2) (2), 148 - 149, 日本語


• 進行がん症例における包括的がん遺伝子パネル検査の臨床診断への影響

  金原史朗, 神保直江, 清田尚臣, 清田尚臣, 花房宏昭, 田中敬子, 澤田優貴, 野口依子, 松本久幸, 兼森玄, 村瀬奈津子, 臼井佑太郎, 能勢拓, 後藤慶子, 小山泰司, 長谷善明, 船越洋平, 南博信

  2025年, 日本臨床腫瘍学会学術集会(CD-ROM), 22nd


• 救急外来で副腎クリーゼを呈しヒドロコルチゾン筋肉内注射により改善した一例 在宅注射指導の重要性

  田中 祐子, 坊 亮輔, 大橋 浩基, 朝貝 芳貴, 池谷 紀衣子, 曽根原 晶子, 洪 聖媛, 花房 宏昭, 南部 静紀, 粟野 宏之

  兵庫県小児科医会, 2025年, 兵庫県小児科医会報, (83) (83), 30 - 34, 日本語


• NF1モザイク症例における遺伝学的解析手法の検討

  久保 亮治, 塩入 桃子, 青木 里美, 花房 宏昭, 鈴木 寿人, 吉岡 愛育, 小野 紀子, 齋藤 苑子, 小崎 健次郎, 天谷 雅行

  日本レックリングハウゼン病学会, 2025年01月, 日本レックリングハウゼン病学会学術大会プログラム・抄録集, 16回, 23 - 23, 日本語


• 兵庫県立こども病院で施行した全エクソン解析症例の検討

  朝貝芳貴, 朝貝芳貴, 花房宏昭, 洪本加奈, 谷口真紀, 野津寛大, 森貞直哉, 森貞直哉, 森貞直哉

  (公社)日本小児科学会, 2025年, 日本小児科学会雑誌, 129(2) (2), 180 - 180, 日本語


• 神経学的症状の精査の中で診断に至った偽性副甲状腺機能低下症の3症例

  朝貝芳貴, 花房宏昭, 大橋浩基, 池谷紀衣子, 曽根原晶子, 洪聖媛, 坊亮輔, 永瀬裕朗, 野津寛大

  2025年, 近畿小児科学会プログラム・抄録集, 38th


• 兵庫県立こども病院における次世代シークエンサーを用いた網羅的遺伝子解析の実践

  森貞直哉, 森貞直哉, 朝貝芳貴, 花房宏昭, 飯島一誠, 野津寛大

  2025年, 近畿小児科学会プログラム・抄録集, 38th


• 便中のフィルムアレイ検査が診療方針決定に有用であったエルシニア腸炎の2例

  酒井菜々花, 朝貝芳貴, 大橋浩基, 末宗和樹, 斉賀佳穂, 曽根原晶子, 鮫島智大, 花房宏昭, 老川静香, 南部静紀, 徳元翔一, 山口宏, 坊亮輔, 永瀬裕朗, 野津寛大

  (公社)日本小児科学会, 2025年, 日本小児科学会雑誌, 129(6) (6), 841 - 841, 日本語


• 摂食障害患者の体重の回復と骨密度の検討

  伊藤立人, 冨岡和美, 川村葵, 曽根原晶子, 京野由紀, 鮫島智大, 花房宏昭, 老川静香, 南部静紀, 徳元翔一, 山口宏, 坊亮輔, 野津寛大, 永瀬裕朗

  (公社)日本小児科学会, 2025年, 日本小児科学会雑誌, 129(6) (6), 834 - 835, 日本語


• 幅広い血縁者の解析がバリアントの評価に有用であったARXによる発達性てんかん性脳症の1男児例

  花房宏昭, 花房宏昭, 山口宏, 澤田優貴, 田中敬子, 老川静香, 坊亮輔, 中川卓, 森貞直哉, 野津寛大, 永瀬裕朗

  2025年, 日本小児遺伝学会学術集会プログラム・抄録集, 47th


• ネフロン癆関連シリオパチーの原因遺伝子と臨床像

  森貞直哉, 森貞直哉, 田中悠, 叶明娟, 花房宏昭, 榊原菜々, 長野智那, 堀之内智子, 野津寛大

  2025年, 日本小児遺伝学会学術集会プログラム・抄録集, 47th


• 兵庫県立こども病院で施行した全エクソン解析症例の検討

  朝貝芳貴, 朝貝芳貴, 花房宏昭, 洪本加奈, 谷口真紀, 野津寛大, 森貞直哉, 森貞直哉

  2025年, 日本小児遺伝学会学術集会プログラム・抄録集, 47th


• 血清アシルカルニチン分析で異常を認めない横紋筋融解症に対して網羅的遺伝子解析が有用であった3例

  曽根原晶子, 坊亮輔, 朝貝芳貴, 大橋浩基, 池谷紀衣子, 花房宏昭, 南部静紀, 森貞直哉, 粟野宏之, 野津寛大

  2025年, 近畿小児科学会プログラム・抄録集, 38th


• MCAD欠損症8名のsick day時の臨床データおよび注意点

  大橋浩基, 坊亮輔, 朝貝芳貴, 曽根原晶子, 池谷紀衣子, 金谷真吾, 花房宏昭, 南部静紀, 山本寛子, 西山敦史, 奥谷貴弘, 尾崎佳代, 粟野宏之, 野津寛大

  2025年, 近畿小児科学会プログラム・抄録集, 38th


• 二次性頭痛の鑑別の中で発見し得た症状の乏しいもやもや病

  鮫島 智大, 山口 宏, 伊藤 立人, 川村 葵, 曽根原 晶子, 洪 聖媛, 花房 宏昭, 老川 静香, 徳元 翔一, 坊 亮輔, 永瀬 裕朗

  (一社)日本小児神経学会, 2024年11月, 脳と発達, 56(6) (6), 460 - 460, 日本語


• NKX2-1関連疾患による家族性運動発達遅滞の診断:家族歴を考慮することの意義(Diagnosis of familial motor developmental delay due to NKX2-1-related disorders: the significance of considering family history)

  洪本 加奈, 花房 宏昭, 丸山 あずさ, 野津 寛大, 森貞 直哉

  (一社)日本遺伝カウンセリング学会, 2024年10月, 日本遺伝カウンセリング学会誌, 45(3) (3), 93 - 96, 英語


• 慢性活動性EBウイルス感染症から発生したNKリンパ腫細胞における新規DDX3Xスプライス変異の同定

  井上 翔太郎, 田村 彰広, 藤川 朋子, 花房 宏昭, 酒巻 太郎, 西村 明紘, 中谷 尚子, 長坂 明臣, 山本 暢之, 野津 寛大, 宮西 正憲

  (一社)日本血液学会, 2024年10月, 日本血液学会学術集会, 86回, O2 - 1, 英語


• KRT5のL12ドメインに2アミノ酸欠失多型を認めた単純型表皮水疱症の1例

  塩入 桃子, 吉岡 愛育, 福本 毅, 久保 亮治, 花房 宏昭

  日本皮膚科学会-大阪地方会・京滋地方会, 2024年06月, 皮膚の科学, 23(2) (2), 152 - 152, 日本語


• さまざまな遺伝学的検査の結果の解釈について学ぶ

  花房 宏昭

  (公社)日本皮膚科学会, 2024年05月, 日本皮膚科学会雑誌, 134(5) (5), 1333 - 1333, 日本語


• Duchenne型筋ジストロフィー患者に対するプレドニゾロンの歩行能力への影響とACTN3遺伝型の関連

  佐伯 淳二郎, 南部 静紀, 曽根原 晶子, 花房 宏昭, 坊 亮輔, 野津 寛大, 粟野 宏之

  (一社)日本小児神経学会, 2024年05月, 脳と発達, 56(Suppl.) (Suppl.), S236 - S236, 日本語


• NIPT判定保留後にステージIVの乳がんが判明した1例

  益子尚久, 今福仁美, 花房宏昭, 田中敬子, 冨本雅子, 高橋良輔, 内田明子, 笹川勇樹, 小野竜輔, 國久智成, 出口雅士, 寺井義人, 谷村憲司

  (一社)日本遺伝カウンセリング学会, 2024年, 日本遺伝カウンセリング学会誌, 45(2) (2), 125 - 125, 日本語


• がんゲノムプロファイル検査で非腫瘍細胞に偽陽性又はモザイクを疑うMLH1病的バリアントを検出し,対応に検討を要した症例

  田中敬子, 花房宏昭, 花房宏昭, 金原史朗, 金原史朗, 松本久幸, 松本久幸, 坊亮輔, 坊亮輔, 國久智成, 國久智成, 清田尚臣, 清田尚臣, 久保亮治, 久保亮治, 南博信, 南博信, 野津寛大, 野津寛大

  (一社)日本遺伝カウンセリング学会, 2024年, 日本遺伝カウンセリング学会誌, 45(2) (2), 131 - 131, 日本語


• 当院における新生児拡大マススクリーニング(NBS)検査費用の変更に伴う検査数や同意率取得率への影響

  大橋浩基, 坊亮輔, 曽根原晶子, 洪聖媛, 花房宏昭, 南部静紀, 藤岡一路, 粟野宏之, 野津寛大

  (公社)日本小児科学会, 2024年, 日本小児科学会雑誌, 128(2) (2), 282 - 282, 日本語


• 古典型フェニルケトン尿症に対しペグバリアーゼを導入することによりフェニルアラニン血中濃度を低下することができた一例

  酒井善紀, 坊亮輔, 角谷美咲, 橋本七月, 池谷紀衣子, 曽根原晶子, 花房宏昭, 南部静紀, 粟野宏之

  兵庫県小児科医会, 2024年, 兵庫県小児科医会報, (82) (82), 13 - 18, 日本語


• 新生児マススクリーニング(NBS)を契機に発見された先天性乳糖不耐症(CLD)の新生児例

  大橋浩基, 朝貝芳貴, 曽根原晶子, 花房宏昭, 南部静紀, 粟野宏之, 坊亮輔

  (一社)日本マススクリーニング学会, 2024年, 日本マススクリーニング学会誌, 34(2) (2), 201 - 201, 日本語


• 乳酸/ピルビン酸比の上昇を伴う高乳酸血症を呈したフルクトース1,6ビスホスファターゼ欠損症の新生児例

  内藤沙苗, 坊亮輔, 池谷紀衣子, 大橋浩基, 曽根原晶子, 花房宏昭, 南部静紀, 福嶋祥代, 五百蔵智明, 粟野宏之

  2024年, 日本先天代謝異常学会雑誌, 40 (CD-ROM)


• 拡大新生児マススクリーニングで診断されたSMN2遺伝子4コピーのSMAに対して発症前治療を行った1例

  曽根原 晶子, 坊 亮輔, 洪 聖媛, 南部 静紀, 花房 宏昭, 李 知子, 竹島 泰弘, 西尾 久英, 粟野 宏之

  (一社)日本マススクリーニング学会, 2023年08月, 日本マス・スクリーニング学会誌, 33(2) (2), 260 - 260, 日本語


• 拡大新生児マススクリーニングで診断されたSMN2遺伝子4コピーのSMAに対して発症前治療を行った1例

  曽根原 晶子, 坊 亮輔, 洪 聖媛, 南部 静紀, 花房 宏昭, 李 知子, 竹島 泰弘, 西尾 久英, 粟野 宏之

  (一社)日本マススクリーニング学会, 2023年08月, 日本マス・スクリーニング学会誌, 33(2) (2), 260 - 260, 日本語


• がんゲノムプロファイル検査でRAD51Dが検出され、事前のリスク低減卵管卵巣摘出術についての情報交換が有用であった症例

  花房 宏昭, 田中 敬子, 濱 真奈美, 金原 史朗, 益子 尚久, 坊 亮輔, 國久 智成, 粟野 宏之, 清田 尚臣, 久保 亮治, 南 博信, 野津 寛大

  (一社)日本遺伝カウンセリング学会, 2023年06月, 日本遺伝カウンセリング学会誌, 44(2) (2), 139 - 139, 日本語


• NIPTの実施週数に検討を要したVanishing Twin妊娠2例について

  濱 真奈美, 花房 宏昭, 田中 敬子, 冨本 雅子, 尾崎 可奈, 今福 仁美, 坊 亮輔, 國久 智成, 久保 亮治, 粟野 宏之, 野津 寛大

  (一社)日本遺伝カウンセリング学会, 2023年06月, 日本遺伝カウンセリング学会誌, 44(2) (2), 149 - 149, 日本語


• 非認証機関でのNIPTで47,XXYもしくは47,XYYの可能性が指摘され、羊水染色体検査で正常核型の診断となった1例

  益子 尚久, 花房 宏昭, 濱 真奈美, 田中 敬子, 前田 美亜, 冨本 雅子, 今福 仁美, 粟野 宏之, 出口 雅士, 寺井 義人, 野津 寛大

  (一社)日本遺伝カウンセリング学会, 2023年06月, 日本遺伝カウンセリング学会誌, 44(2) (2), 156 - 156, 日本語


• 無精子症の精査を契機に染色分体早期解離(PCS)が判明した夫婦へ遺伝カウンセリングを行った1例

  田中 敬子, 花房 宏昭, 濱 真奈美, 千葉 公嗣, 坊 亮輔, 國久 智成, 久保 亮治, 粟野 宏之, 野津 寛大

  (一社)日本遺伝カウンセリング学会, 2023年06月, 日本遺伝カウンセリング学会誌, 44(2) (2), 163 - 163, 日本語


• ヌシネルセン治療を4年間行った脊髄性筋萎縮症3型の大腿MRIの変化

  池谷 紀衣子, 坊 亮輔, 曽根原 晶子, 花房 宏昭, 南部 静紀, 西尾 久英, 橋村 宏美, 粟野 宏之

  (一社)日本小児神経学会, 2023年05月, 脳と発達, 55(Suppl.) (Suppl.), S323 - S323, 日本語


• 持続性ペニシリン製剤を投与した先天梅毒疑い新生児例

  森脇 彩賀, 京野 由紀, 福田 拓弥, 垂井 智前, 花房 宏昭, 城戸 拓海, 菅 秀太郎, 仲宗根 瑠花, 阿部 真也, 芦名 満理子, 藤岡 一路, 野津 寛大

  (公社)日本小児科学会, 2023年04月, 日本小児科学会雑誌, 127(4) (4), 624 - 624, 日本語


• 看護スタッフがCOVID-19に罹患した際のNICU病棟管理の経験

  鳥井 大輝, 阿部 真也, 福田 拓弥, 垂井 智前, 京野 由紀, 城戸 拓海, 花房 宏昭, 菅 秀太郎, 仲宗根 瑠花, 芦名 満理子, 藤岡 一路, 野津 寛大

  (公社)日本小児科学会, 2023年04月, 日本小児科学会雑誌, 127(4) (4), 624 - 625, 日本語


• 【小児外科疾患に関連する症候群】Waardenburg症候群

  亀岡 泰幸, 花房 宏昭, 大片 祐一, 岩渕 瀬怜奈, 吉村 翔平, 渡部 彩, 植村 光太郎, 冨岡 雄一郎, 鮫島 由友, 中井 優美子, 尾藤 祐子

  (株)東京医学社, 2023年04月, 小児外科, 55(4) (4), 454 - 457, 日本語


• 神戸こども初期急病センターを受診した低血糖患者における“血清グルコース値×Δanion gap”の分布

  洪聖媛, 坊亮輔, 曽根原晶子, 近藤淳, 花房宏昭, 鮫島智大, 南部静紀, 野津寛大, 粟野宏之, 粟野宏之

  2023年, 日本先天代謝異常学会雑誌, 39


• 遺伝学的検査が死後の原因検索に有用であったグルタル酸血症2型の症例

  花房宏昭, 花房宏昭, 坊亮輔, 坊亮輔, 曽根原晶子, 洪聖媛, 南部静紀, 平久進也, 森貞直哉, 粟野宏之, 野津寛大, 野津寛大

  2023年, 日本小児遺伝学会学術集会プログラム・抄録集, 46th


• 死亡時のアシルカルニチン分析結果を契機に確定診断したグルタル酸血症2型の一例

  坊 亮輔, 池谷 紀衣子, 花房 宏昭, 南部 静紀, 奥谷 貴弘, 野津 寛大, 粟野 宏之

  (一社)日本先天代謝異常学会, 2022年10月, 日本先天代謝異常学会雑誌, 38, 193 - 193, 日本語


• 糖原病9a型の3家系6人における食事療法開始後の身長の推移

  池谷 紀衣子, 坊 亮輔, 洪 聖媛, 花房 宏昭, 南部 静紀, 粟野 宏之

  (一社)日本先天代謝異常学会, 2022年10月, 日本先天代謝異常学会雑誌, 38, 215 - 215, 日本語


• 【小児の腎疾患を見つめ直す--基礎と臨床】腎疾患の遺伝子解析

  森貞 直哉, 洪本 加奈, 花房 宏昭, 田中 悠

  金原出版(株), 2022年06月, 小児科, 63(6) (6), 583 - 588, 日本語


• 有熱性てんかん重積・急性脳症に単一遺伝子疾患は存在するのか?

  山口宏, 花房宏昭, 徳元翔一, 冨岡和美, 西山将広, 丸山あずさ, 森貞直哉, 野津寛大, 永瀬裕昭

  2022年, 日本人類遺伝学会大会(CD-ROM), 67th


• 日本人新生児におけるアンバウンドビリルビンとUGT1A1バリアントの関連

  花房宏昭, 阿部真也, 藤岡一路, 粟野宏之, 野津寛大

  2022年, 日本人類遺伝学会大会(CD-ROM), 67th


• ファブリー病女性at risk者の診断や治療選択の意思決定に影響する因子の検討

  黄瀬 恵美子, 中村 勝哉, 石川 真澄, 阪下 達哉, 花房 宏昭, 古庄 知己

  (一社)日本遺伝カウンセリング学会, 2021年06月, 日本遺伝カウンセリング学会誌, 42(2) (2), 95 - 95, 日本語


• 遺伝カウンセリング経過中に一時的に「受動的攻撃性」を示したクライエント

  佐久彰子, 中村勝哉, 中村勝哉, 石川真澄, 黄瀬恵美子, 小島朋美, 小島朋美, 花房宏昭, 花房宏昭, 花房宏昭, 玉井真理子, 古庄知己, 古庄知己, 古庄知己

  2021年, 日本人類遺伝学会大会(CD-ROM), 66th


• MSL3欠失を認めたBasilicata-Akhtar syndromeの日本人男児例

  花房宏昭, 森貞直哉, 長坂美和子, 叶明娟, 野口裕子, 長野智那, 野津寛大, 粟野宏之

  2021年, 日本人類遺伝学会大会(CD-ROM), 66th


• 家系内臨床的多様性を呈したファブリー病家系の遺伝カウンセリング経験と治療経過

  中村勝哉, 中村勝哉, 中村勝哉, 黄瀬恵美子, 黄瀬恵美子, 石川真澄, 阪下達哉, 花房宏昭, 関島良樹, 古庄知己, 古庄知己

  (一社)日本遺伝カウンセリング学会, 2021年, 日本遺伝カウンセリング学会誌, 42(2) (2), 100 - 100, 日本語


• 妊娠出産に際し血管型エーラス・ダンロス症候群との鑑別が問題となった古典型エーラス・ダンロス症候群の1例

  松本 直大, 小板橋 紀通, 花房 宏昭, 山口 智美, 古庄 知己, 倉林 正彦

  日本内科学会-関東地方会, 2020年11月, 日本内科学会関東地方会, 664回, 27 - 27, 日本語


• リムパーザのコンパニオン診断結果と遺伝性乳癌卵巣癌症候群の遺伝学的診断結果の解釈が異なる症例の経験

  花房 宏昭, 黄瀬 恵美子, 石川 真澄, 小島 朋美, 高野 亨子, 古庄 知己

  (一社)日本遺伝カウンセリング学会, 2020年06月, 日本遺伝カウンセリング学会誌, 41(2) (2), 84 - 84, 日本語


• 信州大学医学部附属病院におけるローリスク妊婦に対する出生前遺伝カウンセリングの検討

  黄瀬 恵美子, 石川 真澄, 小島 朋美, 高野 亨子, 湊川 真理, 花房 宏昭, 菊地 範彦, 古庄 知己

  (一社)日本遺伝カウンセリング学会, 2020年06月, 日本遺伝カウンセリング学会誌, 41(2) (2), 122 - 122, 日本語


• 【ゲノム革命-予防・医療のイノベーション】ゲノム医療の提供体制構築と人材育成

  花房 宏昭, 古庄 知己

  (株)医学書院, 2020年04月, 公衆衛生, 84(4) (4), 226 - 231, 日本語


• 小児期に尿細管性アシドーシスと診断され,後にリジン尿性蛋白不耐症と診断された患者の長期経過

  花房宏昭, 花房宏昭, 中村勝哉, 中村勝哉, 中村勝哉, 山口智美, 山口智美, 小島朋美, 上条祐司, 青木薫, 加藤修明, 古庄知己, 古庄知己, 花房宏昭, 花房宏昭

  2020年, 日本人類遺伝学会大会(CD-ROM), 65th


• GLA遺伝子c.950C>T(p.I327T)変異を有したファブリー病一家系の臨床的特徴

  中村勝哉, 中村勝哉, 黄瀬恵美子, 石川真澄, 阪下達哉, 花房宏昭, 花房宏昭, 関島良樹, 古庄知己, 古庄知己, 古庄知己, 古庄知己, 関島良樹

  2020年, 日本人類遺伝学会大会(CD-ROM), 65th


• PIK3CAの体細胞モザイク変異によるCLOVES症候群の1女児例

  花房 宏昭, 運崎 愛, 森貞 直哉, 小林 大介, 野村 正, 森 健, 野津 寛大, 中尾 秀人, 飯島 一誠

  (公社)日本小児科学会, 2019年03月, 日本小児科学会雑誌, 123(3) (3), 622 - 622, 日本語

• Influence of genetic variants on unbound bilirubin levels in Japanese newborns: a preliminary study

  The 22nd Congress of the Federation of Asia and Oceania Perinatal Societies, 2023年10月, 英語

  口頭発表（一般）


• TRPC6 pathogenic variant in a Japanese boy with infantile nephrotic syndrome

  ASHG 2019 Annual Meeting, 英語

  ポスター発表

• 網羅的遺伝子解析とスプライシング・機能解析による急性脳症分子病態の包括的解明

  花房 宏昭

  日本学術振興会, 科学研究費助成事業, 若手研究, 神戸大学, 2024年04月01日 - 2027年03月31日