Session Details
[O17]Oral Session 17 Rare Diseases
Fri. Dec 19, 2025 2:05 PM - 2:55 PM JST
Fri. Dec 19, 2025 5:05 AM - 5:55 AM UTC
Fri. Dec 19, 2025 5:05 AM - 5:55 AM UTC
Room 5 (311+312, 3F, PACIFICO Yokohama)
Chairs:Aya Goji(Tokushima Municipal Hospital)/Taisuke Sato(Department of Obstetrics and Gynecology, The Jikei University School of Medicine, Tokyo, Japan)
[O17-1]Short- and Long-read sequencing successfully determined pathogenic variants in all 35 congenital hemophilia A families
Yuri Uchiyama1,2, Yoshiyuki Ogawa3, Kunio Yanagisawa4,5, Akira Matsumoto3, Hideki Uchiumi3, Naomi Tsuchida1,2, Kohei Hamanaka2, Eriko Koshimizu2, Atsushi Fujita2, Satoko Miyatake2,6, Takeshi Mizuguchi2, Naomichi Matsumoto1,2,6 (1.Department of Rare Disease Genomics, Yokohama City University Hospital, 2.Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3.Department of Hematology, Gunma University Graduate School of Medicine, 4.Infection Control and Prevention Center, Gunma University Hospital, 5.Division of Internal Medicine, Fukaya Red Cross Hospital, Fukaya, Japan, 6.Department of Clinical Genetics, Yokohama City University Hospital)
[O17-2]Identification of PTGIS as a causative gene for idiopathic extracranial internal carotid artery vasospasm
Hiroyuki Akagawa1,2, Hideaki Onda3, Takahiro Hori1,4, Kenko Azuma1, Takakazu Kawamata4, Yuichi Kubota2 (1.Institute for Comprehensive Medical Sciences, Tokyo Womenʼs Medical University, Tokyo, Japan, 2.Department of Neurosurgery, Adachi Medical Center, Tokyo Womenʼs Medical University, Tokyo, Japan, 3.Kofu Neurosurgical Hospital, Kofu, Japan, 4.Department of Neurosurgery, Tokyo Womenʼs Medical University, Tokyo, Japan)
[O17-3]Comprehensive analysis of Coffin-Siris syndrome with unresolved exome sequencing
Naomi Tsuchida1, Yuri Uchiyama1,2, Nobuhiko Okamoto3, Seiji Mizuno4, Kohei Hamanaka1, Yukina Hayashi1, Atsushi Fujita1, Eriko Koshimizu1, Satoko Miyatake1,5, Takeshi Mizuguchi1, Naomichi Matsumoto1,2,5 (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 3.Department of Medical Genetics, Osaka Womenʼs and Childrenʼs Hospital, Osaka, Japan, 4.Department of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan, 5.Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa, Japan)
[O17-4]A novel splicing and recurrent variants in ID4 domain-specific Menke-Hennekam syndrome cause histone hyperacetylation
Taiga Aoki1,5, Yasuyuki Fukuhara2, Tetsumin So2, Rika Kosaki2, Arisa Igarashi1, Masahiko Yamamori1, Nana Kobayashi1, Yukimi Abe1, Yumi Enomoto1, Kumiko Yanagi1, Tomoko Kawai3, Kenji Kurosawa2, Yoichi Matsubara1,4, Tadashi Kaname1,5 (1.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, 2.Division of Medical Genetics, National Center for Child Health and Development, Tokyo, Japan, 3.Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, 4.CRIFM Prenatal Medical Clinic, 5.Department of Advanced Pediatric Medicine, Tohoku University School of Medicine, Sendai, Japan)
[O17-5]A de novo PSMC5 p.Pro320Arg variant associated with neurodevelopmental disorder and facial dysmorphism
Nana Kushima1, Aki Ishikawa1,2,3, Kentaro Suda2,3, Tasuku Mariya2,4, Yosuke Nishio6,8,9, Tomoo Ogi6,7, Takeshi Tsugawa1, Akihiro Sakurai3,5 (1.Department of Pediatrics, School of Medicine, Sapporo Medical University, Sapporo, Japan, 2.Department of Clinical Genetics, Sapporo Medical University Hospital, Sapporo, Japan, 3.Department of Clinical Genomics, Division of Genomic and Preventive Medicine, Sapporo Medical University School of Medicine, Sapporo, Japan, 4.Department of Obstetrics and Gynecology, School of Medicine, Sapporo Medical University, Sapporo, Japan, 5.Center for Genomic Medicine, Caress Memorial Hospital, 6.Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan, 7.Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan, 8.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan, 9.Medical Genomics Center, Nagoya University Hospital, Nagoya, Japan)
