Session Details
[P2-03]Pediatric Genetics 2
Fri. Nov 20, 2026 3:30 PM - 4:30 PM JST
Fri. Nov 20, 2026 6:30 AM - 7:30 AM UTC
Fri. Nov 20, 2026 6:30 AM - 7:30 AM UTC
Exhibition Hall 1-A+2 (3) (Exhibition Hall 1-A+2, Exhibition Building, Sendai International Center)
[P2-03-01]Atypical Kearns Sayre Syndrome Lacking Classic Features and Initially Manifesting with Primary Adrenal Insufficiency
Kayo Ozaki1, Ayaka Moriwaki1, Akane Nishikiori1, Yu Nishibayashi1, Kiiko Iketani1, Kei Murayama2, Azusa Maruyama3, Naoya Morisada4, Yasushi Okazaki5 (1. Department of Endocrinology and Metabolism, Hyogo Prefectural Kobe Children's Hospital, 2. Juntendo University Graduate School of Medicine, Department of Intractable Disease Diagnosis and Treatment, 3. Department of Neurology, Hyogo Prefectural Kobe Children's Hospital, 4. Department of Clinical Genetics, Hyogo Prefectural Kobe Children's Hospital, 5. Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine)
[P2-03-02]A case of 3-year-old girl with Bainbridge-Ropers syndrome associated with ASXL3 de novo nonsense variant
Yu Shiguta1,2,3, Yuko Yatomi4, Kyoko Hoshino4, Megumi Ueda1,2,5, Rina Shimomura1,2, Hironao Shirai1,2,6, Yuiko Aoki1,2, Keiko Yamamoto (Shimojima)1,7, Toshiyuki Yamamoto1,2 (1. Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan, 2. Division of Gene Medicine, Graduate School of Medical Science, Tokyo Women's Medical University, Tokyo, Japan, 3. Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan, 4. Segawa Memorial Neurological Clinic for Children, Tokyo, Japan, 5. Department of Pediatrics, Tokyo Women's Medical University Adachi Medical Center, Tokyo, Japan, 6. Department of Pediatrics, Kitasato University School of Medicine, Sagami, Japan, 7. Department of Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan)
[P2-03-03]A novel ASXL3 frameshift variant in a girl with Bainbridge-Ropers syndrome
Ryojun Takeda1,2, Kyoko Takano1,3,4, Tomomi Yamaguchi3,4,5, Tomoki Kosho1,3,4,5,6 (1. Department of Medical Genetics, Nagano Childrens Hospital, 2. Life Science Research Center, Nagano Childrens Hospital, 3. Department of Medical Genetics, Shinshu University School of Medicine, 4. Center for Medical Genetics, Shinshu University Hospital, 5. Division of Clinical Sequencing, Shinshu University School of Medicine, 6. Research Center for Advanced Science and Technology, Shinshu University)
[P2-03-04]Birth cohort differences in behavioral outcomes in Prader-Willi syndrome
Shiomi Otsuji1, Hiyori Ueda1, Natsuki Nakamura1, Tomoko Uehara1, Shin Hayashi1,2, Mie Inaba1 (1. Department of Clinical genetics, Aichi Developmental Disability Center Central Hospital, Kasugai, Aichi, Japan, 2. Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan)
[P2-03-05]New Initiatives in the DK Clinic for babies with Down Syndrome
Nami Bessho1, Miwako Kizumi1, Kei Masai1, Miwa Kobayashi1, Miyu Fukushima2, Kenta Hasumi2, Sayuri Oda2, Hiroyuki Kuramitsu2, Koki Nagai1, Hirofumi Ohashi1, Daiju Oba1 (1. Division of Medical Genetics, Saitama Children's Medical Center, 2. Division of Medical Genetics, Saitama Children's Medical Center)
[P2-03-06]A Novel TFE3 Missense Variant in a Male Patient with TFE3-Related Neurodevelopmental Disorder: Genetic Counseling
Mariko Endou1, Hirofumi Kashii2, Hisato Suzuki3, Daisuke Nakafuji3, Toshiki Takenouchi3, Haruka Yamanaka1, Kentaro Hukuda1, Kenjiro Kosaki3, Hiroshi Yoshihasi1 (1. Department of Clinical Genetics, Tokyo Metropolitan Childrens Medical Center, 2. Department of Neurology, Tokyo Metropolitan Childrens Medical Center, Tokyo, Japan, 3. Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan)
[P2-03-07]Genetic screening unrecognized by parents: parental awareness for newborn screening
Hiroaki Kurata1, Mika Makimura1, Shigenobu Motoshima2, Isao Kawakami1, Toshiyuki Yoshizato2 (1. Department of Pediatrics, National Hospital Organization Kokura Medical Center, Kitakyushu, Japan, 2. Department of Obstetrics and Gynecology, National Hospital Organization Kokura Medical Center, Kitakyushu, Japan)
[P2-03-08]Comparative variant analysis between blood and buccal mucosa in PIK3CA-related Overgrowth Spectrum.
Kenta Hasumi1,2, Miyu Fukushima1,2, Sayuri Oda1,2, Hiroyuki Kuramitsu1,2, Tsuyoshi Numano2, Kei Masai3, Nami Bessho3, Miwako Kizumi3, Koki Nagai3, Hirofumi Ohashi3, Daiju Oba3 (1. Division of Medical Genetics, Saitama Children's Medical Center, 2. Department of Clinical Laboratory, Saitama Children's Medical Center, 3. Division of Medical Genetics, Saitama Children's Medical Center)
[P2-03-09]CDC73-Related Pediatric Parathyroid Carcinoma in a 15-Year-Old Boy
Kazuki Ogihara1, Hideaki Yagasaki1, Tatsuya Horiuti2, Hiromune Narusawa1, Hiroki Ishii2, Masanori Wako3, Koshi Akahane1, Daiju Sakurai2, Takeshi Inukai1 (1. Department of Pediatrics, School of Medicine, University of Yamanashi, 2. Department of Otorhinolaryngology, Head and Neck Surgery, Interdisciplinary Graduate School of Medicine, University of Yamanashi, 3. Plastic Surgery of National Hospital Organization Kofu National Hospital)
[P2-03-10]Maternal Full 15q11q13 Hexasomy with Marked Generalized Hyperpigmentation: Possible OCA2 Gene Dosage Effect
Kaori Fukui1,2, Masaru Matsukura1, Junko Yamamoto1, Ryuta Takase2, Yoriko Watanabe2,3 (1. Department of Pediatrics, Japan Community Health care Organization Kyushu Hospital, Fukuoka, Japan, 2. Dept. Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan, 3. Research Institute of Medical Mass Spectrometry, Kurume University School of Medicine, Fukuoka, Japan)
[P2-03-11]A case of classic Fabry disease diagnosed through expanded newborn screening and subsequent family analysis
Miki Matsui1, Tomoko Lee1, Yoshiyuki Katayama1, Shoko Sonehara2, Ryosuke Bo2, Hiroyuki Awano3, Yasuhiro Takeshima1 (1. Department of Pediatrics, Hyogo Medical University, 2. Department of Pediatrics, Kobe University Graduate School of Medicine, 3. Organization for Research Initiative and Promotion, Tottori University)
[P2-03-12]Clinical characteristics of childhood-onset dentatorubral-pallidoluysian atrophy (DRPLA)
Eri Takeshita1, Kaoru Yamamoto1, Hisako Yamamoto1, Noriko Sumitomo1, Shimpei Baba1, Yuko Shimizu-Motohashi1, Takashi Saito1, Eiji Nakagawa2, Yuji Takahashi3, Hidehiro Mizusawa3, Narihiro Minami4, Yu-ichi Goto4, Masayuki Sasaki5, Hirofumi Komaki1,6 (1. Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan, 2. Department of Epileptology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan, 3. Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan, 4. Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan, 5. Department of Pediatrics, Tokyo Children's Rehabilitation Hospital, Tokyo, Japan, 6. Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan)
[P2-03-13]Diagnostic yield of chromosomal microarray testing according to prior genetic testing: a single-center study
Akiko Yoshida1, Yukiko Toya2, Yumiko Kobayashi1, Kayono Yamamoto1, Yosuke Katsube1, Manami Akasaka2, Nobuhiro Suzumori1 (1. Department of Clinical Genetics, School of Medicine, Iwate Medical University, 2. Department of Pediatrics, School of Medicine, Iwate Medical University)
[P2-03-14]A mother-daughter pair carrying a novel MYH7 variant with distinct cardiomyopathy phenotypes
Ken-ichi Torii1, Nayuka Sumida2, Susumu Urata3, Mami Notake4, Makoto Ichikawa4, Keiichi Hirono5, Kazuki Yamazawa1,4 (1. Department of Pediatrics, NHO Tokyo Medical Center, Tokyo, Japan, 2. Department of Cardiology, NHO Tokyo Medical Center, Tokyo, Japan, 3. Division of Cardiology, National Center for Child Health and Development, Tokyo, Japan, 4. Department of Medical Genetics, NHO Tokyo Medical Center, Tokyo, Japan, 5. Department of Pediatrics, Faculty of Medicine, University of Toyama, Toyama, Japan)
