Session Details
[O01]Oral Session 1 Clinical Genetics 1
Thu. Dec 18, 2025 10:10 AM - 11:00 AM JST
Thu. Dec 18, 2025 1:10 AM - 2:00 AM UTC
Thu. Dec 18, 2025 1:10 AM - 2:00 AM UTC
Room 5 (311+312, 3F, PACIFICO Yokohama)
Chairs：Atsushi Ozawa（Gunma University Graduate School of Health Sciences / Division of Genetics, Gunma University Hospital）／Maki Fukami（Department of Molecular Endocrinology, National Research Institute for Child Health and Development）
[O1-1]Rhopathy-A Neurodevelopmental Disorder Spectrum Caused by Rho GTPase Variants with Cochlear Hypoplasia
Daisuke Nakato1, Chikako Nishida1, Sota Iwatani2, Naoya Morisada2, Fuyuki Miya1, Kenjiro Kosaki1, Toshiki Takenouchi3 (1.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 2.Department of Clinical Genetics, Hyogo Prefectural Kobe Childrenʼs Hospital, Kobe, Japan, 3.Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan)
[O1-2]Long-term prognosis of Kagami-Ogata syndrome
Hayate Masubuchi1,2, Rika Kosaki3, Tsutomu Ogata4, Maki Fukami1, Masayo Kagami1 (1.Dept. of Molecular Endocrinology, National Research Institute for Child Health and Development, 2.Dept. of Pediatr., Keio Univ. Sch. of Med., 3.Division of Medical Genetics, National Center for Child Health and Development, 4.Dept. of Pediatr., Hamamatsu Medical Center)
[O1-3]Summary of patients with cancer predisposition syndrome over the past 15 years; a single-center retrospective study
Kazuki Tanimura1,2, Yuto Oonishi1, Fumika Tachibana1, Rishu Kayatani1, Yuki Matsuoka1, Kai Yamasaki1, Chika Nitani1, Keiko Okada1, Shinji Higuchi2, Hiroaki Nakamura2, Yuko Akaishi2 (1.Department of Pediatric Hematology & Oncology, Osaka City General Hospital, Osaka, Japan, 2.Department of Genetic Medicine, Osaka City General Hospital, Osaka, Japan)
[O1-4]Coexistence of Sitosterolemia and Heterozygous FH Diagnosed by Atypical Features and Genetic Analysis
Satoru Takase1,2, Hiroyuki Ishiura3, Masaki Tanaka1, Mikio Takanashi1, Youko Iizuka1, Sachiko Okazaki1, Hiroaki Okazaki1 (1.Department of Diabetes and Metabolic Diseases, The University of Tokyo Hospital, Tokyo, Japan, 2.The Institute of Medical Science, Asahi Life Foundation, Tokyo, Japan, 3.Department of Neurology, The University of Tokyo Hospital, Tokyo, Japan)
[O1-5]The CYP21A1P/CYP21A2 chimeric gene CH4 is a major pathogenic variant in Japanese patients with non-classic 21OHD
Yoko Saito1, Eriko Adachi1, Ryuichi Nakagawa1, Atsumi Tsuji1, Aya Yoshida2, Makiko Tachibana3, Shinichiro Sano4, Maki Gau1, Shizuka Kirino1, Hisae Nakatani1, Haruki Yamano1, Kohei Aoyama2, Kei Takasawa1, Osamu Ohara5, Kenichi Kashimada1,6 (1.Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan, 2.Departement of Pediatrics, Nagoya City University, Aichi, Japan, 3.Department of Pediatrics, The University of Osaka Graduate School of Medicine, Osaka, Japan, 4.Department of Diabetes and Metabolism, Shizuoka Childrenʼs Hospital, Shizuoka, Japan, 5.KAZUSA DNA Research Institute, Chiba, Japan, 6.National Center for Child Health and Development, Tokyo, Japan)