Session Details
[P1-08]Poster Session 1-08 Rare Diseases 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)
[P1-08-1]Pathological investigation of the myometrium in a woman with musculocontractural Ehlers-Danlos syndrome
Yuki Takahashi1,2, Hirofumi Ando3, Tsutomu Miyamoto3, Tomomi Yamaguchi1,2,4, Tomoki Kosho1,2,4,5,6 (1.Department of Medical Genetics, Shinshu University School of Medicine, Nagano, Japan, 2.Division of Clinical Sequencing, Shinshu University School of Medicine, Nagano, Japan, 3.Department of Obstetrics and Gynecology, Shinshu University School of Medicine, Nagano, Japan, 4.Center for Medical Genetics, Shinshu University Hospital, Nagano, Japan, 5.Research Center for Advanced Science and Technology, Shinshu University, Nagano, Japan, 6.BioBank Shinshu, Shinshu University Hospital, Nagano, Japan)
[P1-08-2]A Rare Case of Kartagener Syndrome with Situs Inversus and Homozygous Exon 1-4 Deletion in DRC1
Junko Miyamoto1, Tetsuya Okazaki2,9, Saki Shinzato3,9, Tomoki Nonaka4,9, Kohei Watanabe5, Koshi Kawakami6,9, Naoki Yoshino7, Akiyoshi Kanazawa8,9 (1.Department of Obstetrics and Gynecology, Shimane Prefectural Central Hospital, Shimane, Japan, 2.Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan, 3.Division of Medical Education, Faculty of Medicine, Tottori University, Tottori, Japan, 4.Department of Clinical Genetics, Tottori University Hospital, Tottori, Japan, 5.Department of Respiratory Medicine, Shimane Prefectural Central Hospital, Shimane, Japan, 6.Department of Clinical Oncology, Shimane Prefectural Central Hospital, Shimane, Japan, 7.Department of Gynecology, Tokushukai Medical Corporation Izumo Tokushukai, Shimane, Japan, 8.Department of Gastroenterological Surgery, Shimane Prefectural Central Hospital, Shimane, Japan, 9.Clinical Genomic Medicine Promotion Office, Shimane Prefectural Central Hospital, Shimane, Japan)
[P1-08-3]Clinical Features of Patients with Stickler Syndrome/Non-syndromic Hearing Loss Associated with COL11A2/COL2A1 Variants
Satomi Inoue1, Haruka Murakami1, Kiyomitsu Nara2, Reiko Muramatsu2, Kayo Momozawa2, Natsumi Yoshida2, Yumika Fue2, Yoko Karino2, Hideki Mutai2,3, Shujiro Minami4, Kazuki Yamazawa1, Tatsuo Matsunaga1,2,4 (1.Department of Medical Genetics, NHO Tokyo Medical Center, Tokyo, Japan, 2.Division of Hearing and Balance Research, NHO Tokyo Medical Center, Tokyo, Japan, 3.Molecular Genetics, Kitasato University School of Medicine, Kanagawa, Japan, 4.Department of Otorhinolaryngology, NHO Tokyo Medical Center, Tokyo, Japan)
[P1-08-4]Identification of novel IQSEC2 isoform specific to the fetal brain: New perspectives on IQSEC2 pathogenesis
Yasuyo Suzuki1, Noriko Nomura1, Kenichiro Yamada1, Nobuhiko Okamoto2, Shin Hayashi1 (1.Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Aichi, Japan, 2.Department of Medical Genetics, Osaka Womenʼs and Childrenʼs Hospital)
[P1-08-5]A case of ZNF148-neurodevelopmental disorder caused by a 3q13.33q21.2 microdeletion
Hiroaki Murakami1,2, Masaru Shinoda1, Tatsuya Sakashita1,2, Emiko Kobayashi1, Kunihiro Matsunami1, Kuniko Tokoro1, Eiji Matsukuma1, Hideo Kaneko1,2, Atsushi Imamura1 (1.Department of Pediatrics, Gifu Prefectural General Medical Center, Gifu, Japan, 2.Department of Medical Genetics, Gifu Prefectural General Medical Center, Gifu, Japan)
[P1-08-6]HLA Typing of cfDNA Confirms Fetal DNA and Enables Accurate Non-Invasive Prenatal Diagnosis of MODY
Kazuyoshi Hosomichi1, Yoshihiro Takahashi2, Yukio Horikawa2 (1.Laboratory of Computational Genomics, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan, 2.Department of Diabetes, Endocrinology and Metabolism, Graduate School of Medicine, Gifu University)
[P1-08-7]Two Cases of Adult-Onset Hypophosphatasia with Different Disease Severities
Yoshihiro Takahashi1,2,3, Yukio Horikawa1,2,3, Keigo Oya1,2, Kimiko Asai3, Yumi Matsuyama3, Shin Tsunekawa1,2 (1.Department of Diabetes, Endocrinology and Metabolism and Department of Rheumatology and Clinical Immunology, Gifu University Graduate School of Medicine, 2.Division of Diabetes, Endocrinology and Metabolism and Division of Rheumatology and Clinical Immunology, Gifu University Hospital, 3.Department of Clinical Genetics Center)
[P1-08-8]Clinical features of Cockayne syndrome type B in a Japanese girl: Novel ERCC6 compound heterozygous mutations found
Munetsugu Hara1, Kaori Fukui1, Daisuke Yamashita1, Ryuta Ishii1, Takayoshi Koike1, Ryuta Takase1, Yoriko Watanabe1, Hirotomo Saitsu2, Mitsuhiro Kato3 (1.Department of Pediatrics and Child Health, Kurume University, School of Medicine, Kurume, Japan, 2.Biochemistry Department, Hamamatsu University School of Medicine, 3.Department of Pediatrics, Showa University School of Medicine)
[P1-08-9]A Novel IRF2BP2 Variant (c.1663T>A, p.C555S) in a Patient with Combined Immunodeficiency
Yoshika Tsuji1, Tomohiro Koga1, Yushiro Endo1, Shota Kurushima2, Atsushi Kawakami1 (1.Department of Immunology and Rheumatology, Graduate School of Biomedical Sciences, Nagasaki University, 2.Sasebo City General Hospital)
[P1-08-10]Auditory neuropathy caused by a frameshift variant of DIAPH1 gene
Sosuke Sahara1, Hiroshi Nakanishi1, Junya Kita1, Shin-Ya Nishio2, Shin-Ichi Usami2, Kiyoshi Misawa1 (1.Department of Otorhinolaryngology/Head & Neck Surgery, Hamamatsu University School of Medicine, Hamamatsu, Japan, 2.Department of Hearing Implant Sciences, Shinshu University School of Medicine, Matsumoto, Japan)
[P1-08-11]A pediatric case of ANKH-related craniometaphyseal dysplasia presenting with delayed eruption of permanent teeth
Tomohiro Hori1,2, Mai Mori1,2, Hideki Matsumoto1, Hideo Sasai1,2,3, Michio Ozeki1, Norio Kawamoto1, Hidenori Ohnishi1,2,4 (1.Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan, 2.Clinical Genetics Center, Gifu University Hospital, Gifu, Japan, 3.Department of Early Diagnosis and Preventive Medicine for Rare Intractable Pediatric Diseases, Graduate School of Medicine, Gifu University, Gifu, Japan, 4.Laboratory of Intractable and Rare Diseases, Graduate School of Medicine, Gifu University, Gifu, Japan)
[P1-08-12]Rapid identification of pathogenic variants in Hirschsprung disease and related disorders using Targeted sequencing
Arisa Igarashi1, Masahiko Yamamori1, Nana Kobayashi1, Yukimi Abe1, Taiga Aoki1, Yumi Enomoto1, Kumiko Yanagi1, Yoichi Matsubara1, Naoki Shimojima2, Tadashi Kaname1 (1.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 2.Division of Pediatric Surgery, National Center for Child Health and Development, Tokyo, Japan)
[P1-08-13]Nanopore Sequencing as a Practical Tool for Single-Gene testing in Familial Mediterranean Fever
Riko Fujioka, Koichi Abe, Yuki Fujita, Keidai Miyakawa, Satoshi Yuhara (H.U. Group Research Institute G.K.)
[P1-08-14]Medical Lives of Women with Mc Cune Albright Syndrome
Minori Ogawa, Kazushige Adachi, Tomohiko Takei, Ryouta Kumasaka, Akiko Otake, Norichika Ushioda, Yoshimitsu Yamamoto (Minoh City Hospital, Osaka, Japan)
[P1-08-15]A novel missense variant of FKBP14 in the Japanese case with kyphoscoliotic Ehlers-Danlos syndrome
Mio Tsuruoka1, Tomomi Yamaguchi2,3,4, Tatsuya Yamamoto5, Yuri Takiguchi4, Tomoki Kosho2,3,4,6 (1.Department of Genetic Medicine, Graduate School of Medicine, Shinshu University, 2.Department of Medical Genetics, Shinshu University School of Medicine, 3.Center for Medical Genetics, Shinshu University Hospital, 4.Division of Clinical Sequencing, Shinshu University School of Medicine, 5.Department of Pediatrics, Hirosaki University School of Medicine, 6.Research Center for Supports to Advanced Science, Shinshu University)
[P1-08-16]Review of information obtained through group outpatient program for Williams syndrome for preparing online resources
Nami Bessho, Miwako Kizumi, Kei Masai, Miwa Kobayashi, Miyu Fukushima, Kenta Hasumi, Sayuri Oda, Hiroyuki Kuramitsu, Yusuke Oguchi, Daiju Oba, Hirofumi Ohashi (Division of Medical Genetics, Saitama Childrenʼs Medical Center, Saitama, Japan)
[P1-08-17]Connective tissue abnormalities in Myhre syndrome: Diagnostic Clues and Implication for Secondary Complication
Kosuke Yamada, Yuka Wada, Naoki Takabayashi, Fumi Kurebayashi, Kenji Shimizu (Division of Clinical Genetics and Cytogenetics, Shizuoka Childrenʼs Hospital, Shizuoka, Japan)
