Session Details
[O3]Pediatric Genetics 1
Thu. Nov 19, 2026 10:10 AM - 11:10 AM JST
Thu. Nov 19, 2026 1:10 AM - 2:10 AM UTC
Thu. Nov 19, 2026 1:10 AM - 2:10 AM UTC
Room 7 (Grand Hall, Sendai Ryokusaikan Visitor Center)
Chair: Kenichi Kashimada (National Center for Child Health and Development (NCCHD)), Yoshio Makita (Department of Clinical Genetics, Asahikawa Medical University)
[O3-01]Identification of Disease-Associated Genes in Status Epilepticus Associated with Fever and Acute Encephalopathy
Hiroshi Yamaguchi1, Hiroaki Hanafusa1, Ming Ye1, Naoya Morisada2, Kandai Nozu1, Hiroaki Nagase1, Masahiro Nishiyama1 (1. Department of Pediatrics, Kobe University Graduate School of Medicine, Hyogo, Japan, 2. Department of Genetics, Hyogo Prefectural Kobe Children's Hospital, Hyogo, Japan)
[O3-02]Functional and protein structural analyses of 4 GNAS-Gsα variants associated with gain-of-function phenotypes
Maiko Ikeda1, Fumiko Kato1, Chikahiko Numakura2,3, Atilano Carcavilla4,5, Guiomar Perez de Nanclares6, Gen Nishimura7, Naoya Saijo8, Jun Takayama9,10, Yasuko Fujisawa1, Toru Sengoku11, Kazuhiro Ogata12, Hirotomo Saitsu13, Tsutomu Ogata1,14 (1. Department of Pediatrics, Hamamatsu University School of Medicine, 2. Department of Pediatrics, Yamagata University School of Medicine, 3. Department of Genomic Medicine, Saitama Medical University Hospital, 4. Pediatric Endocrinology Department, Universidad Autonoma de Madrid, University Hospital La Paz, 5. Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, University Hospital La Paz, 6. Rare Diseases Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Research Health Institute, Araba University Hospital, 7. Department of Radiology, Musashino-Yowakai Hospital, 8. Department of Pediatrics, Tohoku University Graduate School of Medicine, 9. Tohoku University Graduate School of Medicine, 10. Department of AI and Innovative Medicine, Tohoku University School of Medicine, 11. Department of Biochemistry, Yokohama City University Graduate School of Medicine, 12. Innovation & Research Support Center, Graduate School, International University of Health and Welfare, 13. Department of Biochemistry, Hamamatsu University School of Medicine, 14. Department of Pediatrics, Hamamatsu Medical Center)
[O3-03]Progressive familial intrahepatic cholestasis type 7 with refractory rickets after improvement of coagulopathy
Ayaka Sunaga1, Azusa Kawaguchi1, Jiro Abe1,2, Toju Tanaka3, Nana Kushima4, Aki Ishikawa4,5,6, Yosuke Nishio7,8,9, Tomoo Ogi7,10, Masayoshi Nagao1 (1. Dept. of Pediatrics, Center for Genetic Metabolism, NHO Hokkaido Medical Center, Sapporo, Japan, 2. Center for Neuromuscular Disease, Child Health and Development, NHO Hokkaido Medical Center, Sapporo, Japan, 3. Niko-niko pediatric clinic, Sapporo, Japan, 4. Department of Pediatrics, School of Medicine, Sapporo Medical University, Sapporo, Japan, 5. Department of Clinical Genetics, Sapporo Medical University Hospital, Sapporo, Japan, 6. Department of Clinical Genomics, Division of Genomic and Preventive Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan, 7. Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan, 8. Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan, 9. Department of Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan, 10. Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan)
[O3-04]Identification of loss of heterozygosity identified by paired tumor-germline WGS in a patient with ROHHAD syndrome
Akari Utsunomiya1, Hikaru Nakahara2, Akari Hirayama1, Ichiko Yamakita1, Kosei Hasegawa3, Takao Hinoi2 (1. Department of Pediatrics, Cancer genome, Hiroshima City North Medical Center, Asa Citizens Hospital, 2. Department of Clinical and Molecular Genetics, Hiroshima University Hospital, 3. Department of Pediatrics, Okayama University Medical Development Field)
[O3-05]Comprehensive Genetic Analysis of Severe Early-Onset Obesity at a Single Institution in Japan
Jun Mori1, Akari Nagai1, Eri Koga1, Yo Watanabe1, Yuki Yamada1, Shinji Higuchi1, Rie Kawakita1, Yui Nagayasu2, Ayano Hashiguchi2, Saori Kuwatani2, Masaru Kato2, Hiroaki Nakamura3 (1. Division of Pediatric Endocrinology, Metabolism and Nephrology, Children's Medical Center, Osaka City General Hospital, 2. Clinical Genetics Laboratory, Osaka City General Hospital, 3. Department of Clinical Genetics, Osaka City General Hospital)
[O3-06]Early Genomic Diagnosis of Distal Deletion 14q Syndrome Triggered by Research-Based Trio Exome Sequencing
Koji Nakae1, Shiori Hamada1,2, Junpei Kawamura1, Kentaro Ueno1, Toshiki Takenouchi2, Yasuhiro Okamoto1 (1. Department of Pediatrics, Kagoshima University Hospital, Kagoshima, Japan, 2. Department of Pediatric Neurology, Okayama University Graduate School of Medicine Dentistry and Pharmaceutical Sciences, Okayama, Japan)