Session Details

[P19]一般演題(ポスター)19 遺伝・遺伝子異常

Fri. Jun 6, 2025 4:40 PM - 5:30 PM JST
Fri. Jun 6, 2025 7:40 AM - 8:30 AM UTC
ポスター会場

[P19-01]An autopsy case of a patient with a GNAO1 mutation presenting with movement disorders and sudden unexpected death

Miki Ikeda1, Saki Uneoka1, Aritomo Kawashima1, Yu Katata1, Wakaba Endo1, Takehiko Inui1, Noriko Togashi1, Atsuo Kikuchi2, Kyoko Ito3, Kazuhiro Haginoya1 (1.Department of Neurology, Miyagi Children's Hospital, Sendai, Japan, 2.Department of Pediatrics, Tohoku University Hospital, Sendai, Japan, 3.Department of Molecular Pathology, Kyoto Prefectural University Graduate School of Medicine, Kyoto, Japan)

[P19-02]A case of ADPRHL2 variants with dysautonomia presenting recurrent ataxia and walking difficulty due to fever

Emi Sato1, Naomichi Mano1, Masanori Fujimoto1, Yuka Murofushi1, Toshihiko Iwaki1, Daisuke Ieda1, Yutaka Negishi1, Ayako Hattori1,2, Shinji Saitoh1 (1.Nagoya City University, Graduate school of Medical Sciences, Department of Pediatrics and Neonatology, Aichi, Japan, 2.Department of Pediatrics, Nagoya City University East Medical Center, Aichi, Japan)

[P19-03]WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females

Chihiro Abe-Hatano1, Ken Inoue1, Eri Takeshita2, Yosuke Kawai3, Katsushi Tokunaga3, Yu-ichi Goto1 (1.Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan, 2.Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan, 3.Genome Medical Science Project, National Center for Global Health and Medicine, Tokyo, Japan)

[P19-04]Two cases of neurodevelopmental disorder caused by CTNNB1 variants

Kenichi Maeda1, kojima koutarou1, Kozue Mori1, Noriko Hidaka1, Yasuhiro Kimoto1, Kouichiro Yoshiura2, Hiroshi Moritake1 (1.Department of Pediatrics, University of Miyazaki, Miyazaki, Japan, 2.Department of Human Genetics, Atomic Bomb Disease Institute, Nagasaki University, Nagasaki, Japan.)

[P19-05]A case of PACS1 neurodevelopmental disorder with abnormal eye movements

Taiju Hayashi1, Kaishu Oda1, Rei Urushibata1, Hidetoshi Ishigaki1, Takuya Hiraide1, Hirotomo Saitsu2, Tokiko Fukuda3 (1.Department of Pediatrics, Hamamatsu University School of Medicine,Hamamatsu,Japan, 2.Department of Biochemistry, Hamamatsu University School of Medicine,Hamamatsu,Japan, 3.Department of Hamamatsu Child Health and Development, Hamamatsu University School of Medicine,Hamamatsu,Japan)

[P19-06]Two cases of Xia-Gibbs syndrome with epilepsy controlled well with valproic acid

Fumio Ichinose1,2, Naoya Higuchi1, Takuji Nakamura1, Masafumi Sanefuji1, Riko Matsuda3, Mami Takao3, Koh-ichiro Yoshiura4, Kumiko Yanagi5, Tadashi Kaname5, Muneaki Matsuo1 (1.Department of Pediatrics, Fuculty of Medicine, Saga University, Saga, Japan, 2.Department of Pediatrics, NHO Ureshino Medical Center, Ureshino, Japan, 3.Clinical Genomics Center, Nagasaki University Hospital, Nagasaki, Japan, 4.Department of Human Genetics & Leading Medical Research Core Unit, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, 5.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan)

[P19-07]Efficacy of screening for inherited GPI deficiency with CD16b

Junpei Tanigawa1, Shin Nabatame1, Saori Umeshita2, Kae Imanishi2, Tomonori Hasegawa3, Taroh Kinoshita2, Norimitsu Inoue4, Yasuji Kitabatake1, Yoshiko Murakami2 (1.Department of Pediatrics, Graduate School of Medicine, The University of Osaka, Suita, Japan, 2.Laboratory of Immunoglycobiology, Research Institute for microbial diseases, The University of Osaka, Suita, Japan, 3.Clinical Study Management Department, H.U.Fontier,Inc, Shinjyuku-ku, Tokyo, Japan, 4.Department of Molecular Genetics, Wakayama Medical University, Wakayama, Japan)

[P19-08]A case with TCF20 pathogenic variant presenting neurodevelopmental disorder and spastic quadriplegia

Naoki Sugano1, Chizuru Amesara1, Junpei Tanigawa1, Ikuko Hirata2, Yoshiko Iwatani2, Kuriko Kagitani-Shimono2, Masaya Tachibana2, Shin Nabatame1, Yasuji Kitabatake1 (1.Department Of Pediatrics, Graduate School of Medicine, The University of Osaka, Suita, Japan, 2.United Graduate School of Child Development, The University of Osaka)

[P19-09]A 3-year-old boy with congenital clubfoot leading to distal muscle atrophy and a pathogenic variant in the TRPV4 gene.

Tatsuo Hosoda1, Yoshihiro Maegaki1, Hiroyuki Awano2, Kentarou Okada1, Tomoki Nonaka2 (1.Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 2.Department of genetic medicine , Tottori University Hospital)