Session Details
[P1-07]Poster Session 1-07 Clinical Genetics 1
Thu. Dec 18, 2025 6:00 PM - 7:00 PM JST
Thu. Dec 18, 2025 9:00 AM - 10:00 AM UTC
Thu. Dec 18, 2025 9:00 AM - 10:00 AM UTC
Poster Room 2 (315, 3F, PACIFICO Yokohama)
[P1-07-1]A recurrent R83W mutation in RAB3A causes autosomal-dominant cerebellar ataxia
Ryosuke Miyamoto1, Ayuko Sakane2,3, Hiroyuki Morino4, Kodai Kume5, Tomoyasu Matsubara1,6, Tatsuya Fukumoto1, Yusuke Osaki1, Konoka Tachibana1, Yoshihiko Nishida7, Yuji Takahashi8, Kenji Mizuguchi9, Shigeo Murayama6,10, Yuko Saito6, Hideshi Kawakami5, Takuya Sasaki2, Yuishin Izumi1 (1.Department of Neurology, Tokushima University Graduate School of Biomedical Sciences, 2.Department of Biochemistry, Tokushima University Graduate School of Biomedical Sciences, 3.Department of Interdisciplinary Researches for Medicine and Photonics, Institute of Post-LED Photonics, 4.Department of Medical Genetics, Tokushima University Graduate School of Biomedical Sciences, 5.Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, 6.Department of Neuropathology (Brain Bank for Aging Research), Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology, 7.Department of Neurology, Itsuki Hospital, 8.Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 9.Institute for Protein Research, The University of Osaka, 10.Brain Bank for Neurodevelopmental, Neurological and Psychiatric Disorders, United Graduate School of Child Development, Osaka University)
[P1-07-2]Genetic analysis of early-onset inherited retinal dystrophy in Japanese infants and young children
Kaoruko Torii1, Sachiko Nishina2, Kei Mizobuchi3, Hazuki Anzai2, Miki Hiraoka4,5, Hiroyuki Kondo6, Koji Nishiguchi7,8, Toru Nakazawa7, Maki Fukami9, Masakazu Takayama1, Akiko Hikoya1, Hiroki Kaneko1, Miho Sato1, Noriyuki Azuma2,10, Takaaki Hayashi3, Hirotomo Saitsu11, Yoshihiro Hotta1 (1.Department of Ophthalmology, Hamamatsu University School of Medicine, Hamamatsu, Japan, 2.Division of Ophthalmology, National Center for Child Health and Development, Tokyo, Japan, 3.Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan, 4.Department of Ophthalmology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan, 5.Department of Ophthalmology, Health Sciences University of Hokkaido, Sapporo, Japan, 6.Department of Ophthalmology, University of Occupational and Environmental Health, Kitakyushu, Japan, 7.Department of Ophthalmology, Tohoku University Graduate School of Medicine, Sendai, Japan, 8.Department of Ophthalmology, Nagoya University Graduate School of Medicine, Nagoya, Japan, 9.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan, 10.Medical Research Institute, Institute of Science Tokyo, Tokyo, Japan, 11.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan)
[P1-07-3]Application of rLAS (RNA Long-amplicon Sequencing) for splicing analysis of non-expression genes in blood using iPSC
Sumihito Togi1,2, Hiroki Ura1,2, Hisayo Hatanaka1, Yo Niida1,2 (1.Center for Clinical Genomics, Kanazawa, Medical University Hospital, 2.Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University)
[P1-07-4]Weakened binding to SNP25 due to PRRT2 mislocalization: The pathogenesis of paroxysmal kinesigenic dyskinesia
Kenko Azuma1, Shiro Horisawa2, Jun Ikezawa3, Takakazu Kawamata2, Hiroyuki Akagawa1 (1.Institute for Comprehensive Medical Sciences, Tokyo Womenʼs Medical University, Tokyo, Japan, 2.Department of Neurosurgery, Tokyo Womenʼs Medical University, Tokyo, Japan, 3.Department of Neurology, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan)
[P1-07-5]Fifty Years of Clinical Experience with Prader-Willi Syndrome: A Single-Center Study
Shiomi Otsuji1, Hiyori Ueda1, Natsuki Nakamura1, Tomoko Uehara1, Seiji Mizuno1, Shin Hayashi1,2, Mie Inaba1 (1.Department of Clinical Genetics, Aichi Developmental Disability Center Central Hospital, Kasugai, Aichi, Japan, 2.Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan)
[P1-07-6]Complex structural variants involving PHEX at Xp22 in a female patient with X-linked hypophosphatemia
Erika Uehara1, Yasuhiro Naiki2, Atsushi Hattori1,3, Maki Fukami1,3, Keiko Matsubara1,3 (1.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2.Division of Endocrinology and Metabolism, National Center for Child Health and Development, 3.Division of Diversity Research, National Research Institute for Child Health and Development)
[P1-07-7]Differential genetic basis of antibody response and adverse reactions to SARS-CoV-2 vaccines in Japanese population
Keiko Yamazaki1, Tatsuhiko Naito2, Yoichi Mashimo1, Takahiro Kageyama3, Shigeru Tanaka3, Toshibumi Taniguchi4,5, Kazuyuki Matsushita6, Hidetoshi Igari4,5, Hideki Hanaoka7, Koutaro Yokote8, Hiroshi Nakajima3,5, Yukinori Okada2,9, Yoshihiro Onouchi1 (1.Department of Public Health, Chiba University Graduate School of Medicine, Chiba, Japan, 2.Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan, 3.Department of Allergy and Clinical Immunology, Chiba University Graduate School of Medicine, Chiba, Japan, 4.Department of Infectious Diseases, Chiba University Hospital, Chiba, Japan, 5.Chiba University Hospital COVID-19 Vaccine Center, Japan, 6.Division of Laboratory Medicine, Chiba University Hospital, Chiba, Japan, 7.Clinical Research Center, Chiba University Hospital, Chiba, Japan, 8.Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan, 9.Department of Genome Informatics, Graduate School of Medicine, The University of Tokyo)
[P1-07-8]A study on the usefulness of Longitudinal hearing evaluation for each causative gene of syndromic hearing loss
Yumiko Kobayashi1, Kayono Yamamoto1, Akiko Yoshida1, Yosuke Katsube1, Nobuhiro Suzumori1, Shin-ya Nishio2, Shin-Ichi Usami2 (1.Department of Clinical Genetics, Iwate Medical University, Iwate, Japan, 2.Department of Hearing Implant Sciences, Shinshu University School of Medicine, Nagano, Japan)
[P1-07-9]Report on clinical findings in 34 patients diagnosed with Sotos syndrome based on genetic examination
Tomoko Uehara1, Hiyori Ueda1, Natsuki Nakamura1, Shiomi Otsuji1, Seiji Mizuno1, Shin Hasashi1,2, Mie Inaba1 (1.Department of Pediatric Internal Medicine and Clinical Genetics, Aichi Developmental Disability Center Central Hospital, 2.Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center)
[P1-07-10]Replication of the association between the ELAVL2 rs4977887 variant and postoperative opioid-related nausea/vomiting
Daisuke Nishizawa1,2, Tsutomu Mieda3, Miki Tsujita4, Hideyuki Nakagawa4, Shigeki Yamaguchi5, Ryozo Morino6, Miyuki Yokota7,8, Shinya Kasai2, Junko Hasegawa2, Yuko Ebata2, Kyoko Nakayama1,2, Akira Kitamura4, Masakazu Hayashida2,4,9, Kazutaka Ikeda1,2 (1.Department of Neuropsychopharmacology, National Institute of Mental Health, National Center of Neurology and Psychiatry (NCNP), 2.Addictive Substance Project, Tokyo Metropolitan Institute of Medical Science, Tokyo, Japan, 3.Department of Anesthesiology, Saitama Medical University Hospital, Saitama, Japan, 4.Department of Anesthesiology, Saitama Medical University International Medical Center, Saitama, Japan, 5.Department of Gastroenterological Surgery, Saitama Medical University International Medical Center, Saitama, Japan, 6.Division of Anesthesiology, Koujinkai Daiichi Hospital, Tokyo, Japan, 7.Department of Anesthesia, Cancer Institute Hospital, Tokyo, Japan, 8.Department of Anesthesiology, East Hokkaido Hospital, Hokkaido, Japan, 9.Department of Anesthesiology & Pain Medicine, Juntendo University School of Medicine, Tokyo, Japan)
[P1-07-11]Crude estimation of the number of Down syndrome births based on a survey of delivery facilities
Kimiko Ueda1, Narumi Kato2, Masako Nishikawa3, Chisen Takeuchi4 (1.Faculty of Health and Well-being, 2.Department of Specific Pediatric Chronic Disease Information, National Center for Child Health and Development, 3.Center for Research Promotion, The Jikei University School of Medicine, 4.Department of Clinical Genetics, Jikei University Hospital)
[P1-07-12]A case of familial hypercholesterolemia with suspected homozygosity and genetic testing
Ruriko Maruyama1, Masatoshi Yamaguchi1, Hisanobu Shimazu2, Yunosuke Matuura2, Koichi Kaikita2 (1.Division of Genetic Counseling, University of Miyazaki Hospital, Miyazaki, Japan, 2.Division of Cardiovascular Medicine and Nephrology, Department of Internal Medicine, University of Miyazaki, Miyazaki, Japan)
[P1-07-13]Long-read sequence of DSPP gene in familial Dentinogenesis imperfecta
Hiroshi Kurosaka, Takayuki Tsujimoto, Yuki Shiraishi, Chisato Morita, Shinsuke Itoh, Toshihiro Inubushi, Takashi Yamashiro (Department of Orthodontics and Dentofacial Orthopedics, The University of Osaka Graduate School of Dentistry, Suita, Japan)
[P1-07-14]Two cases with hereditary dilated cardiomyopathy due to parental somatic mosaicism
Daiju Oba, Kenta Hasumi, Miyu Fukushima, Hiroyuki Kuramitsu, Miwako Kizumi, Hirofumi Ohashi (Division of Medical Genetics, Saitama Childrenʼs Medical Center, Saitama, Japan)
