Session Details
[P1-09]Rare Diseases 1
Thu. Nov 19, 2026 4:00 PM - 5:00 PM JST
Thu. Nov 19, 2026 7:00 AM - 8:00 AM UTC
Thu. Nov 19, 2026 7:00 AM - 8:00 AM UTC
Exhibition Hall 1-A+2 (9) (Exhibition Hall 1-A+2, Exhibition Building, Sendai International Center)
[P1-09-01]Severe Fetal Phenotype Associated with a de novo ATP6V0A1 p.R804H Variant Suggests a Dominant-Negative Mechanism
Tetsuro Shimada1,2, Kosuke Taniguchi2,3, Ryohei Oeda2,4, Yuri Kondo2, Takafumi Okusa1, Kenji Horie1, Manabu Ogoyama1, Tomoko Kawai3, Kazuhiko Nakabayashi3, Hironori Takahashi1, Kenichiro Hata2,3 (1. Department of Obstetrics and Gynecology, Jichi Medical University, Tochigi, Japan, 2. Department of Medical Genetics and Genomics, Gunma University Graduate School of Medicine, Gunma, Japan, 3. Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, Tokyo, Japan, 4. Department of Obstetrics and Gynecology, Gunma University Graduate School of Medicine, Gunma, Japan)
[P1-09-02]Clinical Course and Psychosocial Impact of Genetic Diagnosis in an Adult Patient with RAPADILINO Syndrome
Kanako Ishii1,2, Sawako Matsuzaki1, Akiko Ishikawa1, Masataka Ishimura3, Mamoru Ito4, Yasutaka Kimoto5, Yasunari Asano6, Maki Umakoshi7, Gaku Tsuji8, Yumiko Taura1, Yasunari Sakai3, Eishi Baba9 (1. Department of Clinical Genetics and Medicine, Kyushu University Hospital, Fukuoka, Japan, 2. Department of Pediatrics, Kyushu University Hospital, Fukuoka, Japan, 3. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan, 4. Department of Hematology, Oncology and Cardiovascular Medicine, Kyushu University Hospital, Fukuoka, Japan, 5. Department of Clinical Immunology, Rheumatology, and Infectious Disease, Kyushu University Hospital, Fukuoka, Japan, 6. Department of Psychosomatic Medicine, Kyushu University Hospital, Fukuoka, Japan, 7. Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan, 8. Research and Clinical Center for Yusho and Dioxin, Kyushu University Hospital, Fukuoka, Japan, 9. Department of Comprehensive Oncology, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan)
[P1-09-03]A novel homozygous missense NPR2 variant identified in a patient with acromesomelic dysplasia, Maroteaux type
Kenichiro Nakamura1,3, Takao Matsuda2, Katsumasa Goto1, Takuya Hanaoka1,3, Noriyuki Kimura3 (1. Department of Neurology, NHO Nishibeppu National Hospital, 2. Department of Reproductive medicine and Genetics, NHO Nishibeppu National Hospital, 3. Department of Neurology, Faculty of Medicine, Oita university)
[P1-09-04]A Second Case of CLDN19 p.(Gly20Asp) Homozygosity with Sensorineural Hearing Loss
Manami Morii1, Isabel Castillo2, Rino Sasaki1, Kazuyoshi Hosomichi1, Vanessa Romero3,4 (1. Laboratory of Computational Genomics, Tokyo University of Pharmacy and Life Sciences, Tokyo, Japan, 2. Department of Immunology, Complejo Hospitalario de Caceres, Caceres, Spain, 3. Instituto de Microbiologia, Colegio de Ciencias Biologicas y Ambientales, Universidad San Francisco de Quito, Quito, Ecuador, 4. Escuela de Medicina, Colegio de Ciencias de la Salud, Universidad San Francisco de Quito, Quito, Ecuador)
[P1-09-05]Analyzing Complex Genomic Regions Using a Nanopore-based Long-Amplicon Sequencing Strategy for the Human ABCC6 Gene
Keisuke Miyako, Takayuki Ishige, Masaki Takazawa, Sakae Itoga, Osamu Ohara (Department of Applied Genomics, Kazusa DNA Research Institute)
[P1-09-06]A Case of PLPBP Homozygous Variant Presenting with Fever-Triggered Super-Refractory Epilepsy
Hiroshi Matsumoto1, Hiromi Teranishi1, Satomi Ohtaki1, Jun Hirai1, Kaori Sassa1, Konomi Shimoda2, Naoto Nishimura3, Takeshi Mizuguchi3, Naomichi Matsumoto3,4,5, Hideo Yamanouchi1 (1. Department of Pediatrics, Saitama Medical University, Saitama, Japan, 2. Department of Pediatrics, National Rehabilitation Center for Children with Disabilities, Tokyo, Japan, 3. Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 4. Department of Rare Disease Genomics, Yokohama City University Hospital, 5. Department of Clinical Genetics, Yokohama City University Hospital)
[P1-09-07]Novel atypical CAH-X allele and new molecular pathogenesis revealed by integrated analysis of TNXB chimeric structures
Tomomi Yamaguchi1,2,3, Kei Takasawa4, Eriko Adachi4,5, Yoko Saito4, Yuri Takiguchi3, Katsuyuki Matsui6, Akari Utsunomiya7, Shizuka Kirino4,5, Haruki Yamano4, Hisae Nakatani4, Yukihiro Hasegawa8, Takashi Hamajima9, Masanobu Kawai10, Tomonobu Hasegawa11, Satoshi Narumi11, Kenichi Kashimada4,5, Tomoki Kosho1,2,3,12,13 (1. Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 2. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, 3. Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan, 4. Department of Pediatrics and Developmental Biology, Institute of Science Tokyo, Tokyo, Japan, 5. Division of Endocrinology and Metabolism, National Center for Child Health and Development, Tokyo, Japan, 6. Division of Pediatric Endocrinology, Metabolism & Diabetes, Shiga General Hospital, Moriyama, Japan, 7. Department of Pediatrics, Cancer genome, Hiroshima City North Medical Center, Asa Citizens Hospital, Hiroshima, Japan, 8. Department of Pediatrics, Division of Endocrinology and Metabolism, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan, 9. Department of Endocrinology and Metabolism, Aichi Children's Health and Medical Center, Obu, Japan, 10. Department of Molecular Genetics and Endocrinology, Research Institute, Osaka Women's and Children's Hospital Research Institute, Izumi, Japan, 11. Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan, 12. Research Center for Supports to Advanced Science, Shinshu University, Matsumoto, Japan, 13. BioBank Shinshu, Shinshu University Hospital, Matsumoto, Japan)
[P1-09-08]A case with KDM6B-related neurodevelopmental disorder harboring a novel pathogenic variant
Kentaro Okada1, Tomoki Nonaka1, Mai Adachi2, Takehisa Fujiwaki3, Kaori Adachi4, Yoshihiro Maegaki5, Masamune Sakamoto6, Naomichi Matsumoto6,7,8,9, Hiroyuki Awano1,4 (1. Department of Clinical Genetics, Tottori University Hospital, Yonago, Japan, 2. Division of Nursing, Tottori University Hospital, 3. Division of Pediatrics, Matsue Red Cross Hospital, 4. Research Initiative Center, Organization for Research Initiative and Promotion, Tottori University, 5. Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, 6. Department of Human Genetics, Yokohama City University Graduate School of Medicine, 7. Department of Clinical Genetics, Yokohama City University Hospital, 8. Department of Rare Disease Genomics, Yokohama City University Hospital, 9. Medical Genome Center, National Center of Neurology and Psychiatry)
[P1-09-09]A Case of FARSA-Related Congenital Alveolar Proteinosis: Molecular Diagnosis Without Reproductive Eligibility
Chiharu Miyayama1, Shino Shimada1,2,3, Motoko Watanabe2, Masami Arai2, Keiko Gotou2 (1. Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan, 2. Department of Clinical Genetics, Juntendo University, Tokyo, Japan, 3. Medical Genomic Center, National Center for Global Health and Medicine, Japan Institute for Health Security, Tokyo, Japan)
[P1-09-10]Correction of Glycan Abnormalities in a Case of CDG IIc Caused by a Novel Pathogenic SCL35C1 Variant via Fucose Intake
Tadashi Kaname1, Tomoko Uehara2, Hayato Ohta3, Jun-ichi Furukawa4, Kumiko Yanagi1, Yoshiki Yamaguchi5, Shoko Nishihara3 (1. Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 2. Naha City Hospital, Department of Pediatrics, Naha, Japan, 3. Glycan and Life Systems Integration Center (GaLSIC), Soka University, Tokyo, Japan, 4. Institute for Glyco-Core Research (iGCORE), Nagoya University, Nagoya, Japan, 5. Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Sendai, Japan)