Session Details
[O6]Pediatric Genetics 2
Thu. Nov 19, 2026 11:10 AM - 12:10 PM JST
Thu. Nov 19, 2026 2:10 AM - 3:10 AM UTC
Thu. Nov 19, 2026 2:10 AM - 3:10 AM UTC
Room 7 (Grand Hall, Sendai Ryokusaikan Visitor Center)
Chair: Masayo Kagami (National Center for Child Health and Development), Hirofumi Ohashi (Division of Medical Genetics, Saitama Children's Medical Center)
[O6-01]De novo SVA type D insertion in a deep intronic region of NIPBL causing Cornelia de Lange syndrome
Hironao Shirai1,2, Yuiko Aoki1,3, Keiko Yamamoto3,4, Toshiyuki Yamamoto1,3 (1. Division of Gene Medicine, Graduate School of Medicine, Tokyo Women's Medical University, Tokyo, Japan, 2. Department of Pediatrics, Kitasato University School of Medicine, 3. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 4. Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan)
[O6-02]Targeted long-read sequencing reveals allele-specific methylation profiles at the GNAS locus in pseudohypoparathyroidism
Masayo Kagami1, Sayuri Nakamura1,2,3, Hiromune Narusawa1,4, Tatsuki Urakawa1, Yukie Tanimoto5, Kyoichiro Tsuchiya5, Sayaka Kawashima6, Akie Nakamura1, Maki Fukami1 (1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan, 2. Center for Postgraduate Education and Training, National Center for Child Health and Development, Tokyo, Japan, 3. Department of Advanced Pediatric Medicine, Tohoku University School of Medicine, Tokyo, Japan, 4. Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan, 5. Department of Diabetes and Endocrinology, University of Yamanashi, Yamanashi, Japan, 6. Department of Pediatrics, Yamagata Prefectural Central Hospital, Yamagata, Japan)
[O6-03]Complete Paternal Isodisomy of Chromosome 10 Harboring a Novel ERLIN1 Variant Causing Spastic Paraplegia Type 62
Nakamura Sadao1, Yasutsugu Chinen1, Takaya Iida2, Kumiko Yanagi2, Tadashi Kaname2, Koichi Nakanishi1 (1. Department of Child Health and Welfare (Pediatrics), Graduate School of Medicine, University of the Ryukyus, Ginowan, Okinawa, Japan, 2. Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan)
[O6-04]A neonatal case of CHARGE syndrome with a synonymous CHD7 variant shown to be pathogenic by RNA analysis
Chikahiko Numakura1,2, Moeko Tanaka1,2, Sayaka Suzuki-Ajihara1,2, Eri Shijiki1,3, Megumi Saito-Tsuruoka1, Hiroyuki Takao4,5, Taisuke Nabeshima4, Koichi Toda4, Osamu Ohara6, Ikuma Musha1,2 (1. Department of Clinical Genomics, Saitama Medical University, Saitama, Japan, 2. Department of Pediatrics, Saitama Medical University, Saitama, Japan, 3. Department of Clinical Genomics, The University of Tokyo Hospital, 4. Department of Pediatric Cardiology, International Medical Center, Saitama Medical University, Saitama, Japan, 5. Department of Pediatrics, Saitama Medical Center, Saitama Medical University, Saitama, Japan, 6. Department of Applied Genomics, Kazusa DNA Research Institute, Chiba, Japan)
[O6-05]Clinical Comparison of Disorders Caused by Abnormalities of Histone H3 Lysine Methyltransferases
Hidefumi Tonoki, Mutsumi Kawabata (Medical Genetics Center, Tenshi Hospital, Sapporo, Japan)
[O6-06]A case of SUFU haploinsufficiency presenting with mild Joubert syndrome spectrum and intellectual developmental disorder
Kentaro Shirai1, Jun Oyama2, Akimitsu Watababe1, Yu Shiguta3,4,5, Megumi Ueda3,4,6, Hironao Shirai4,7, Rina Shimomura3, Keiko Shimojima Yamamoto3,8, Toshiyuki Yamamoto3,4 (1. Department of Pediatrics, Tsuchiura Kyodo General Hospital, Ibaraki, Japan, 2. Department of Diagnostic Radiology, Institute of Science Tokyo Hospital, Tokyo, Jpan, 3. Institute of Medical Genetics, Tokyo Womens Medical University, Tokyo, Japan, 4. Division of Gene Medicine, Graduate School of Medical Science, Tokyo Womens Medical University, Tokyo, Japan, 5. Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan, 6. Department of Pediatrics, Tokyo Womens Medical University School of Medicine, Tokyo, Japan, 7. Department of Pediatrics, Kitasato University School of Medicine, Sagami, Japan, 8. Department of Transfusion Medicine and Cell Processing, Tokyo Womens Medical University, Tokyo, Japan)