Session Details
[P2]一般演題(ポスター)2 遺伝・遺伝子異常
Thu. Jun 5, 2025 1:40 PM - 2:30 PM JST
Thu. Jun 5, 2025 4:40 AM - 5:30 AM UTC
Thu. Jun 5, 2025 4:40 AM - 5:30 AM UTC
ポスター会場
[P2-01]A case of Danon disease complicated by Cabezas syndrome due to deletion of the LAMP2 gene and the adjacent CUL4B gene
○Konomi Shimoda1,2, Hiroshi Terashima1, Yu Kakimoto1, Takayuki Mori1, Yoshihiko Saito3, Shunpei Uchino1, Kei Murayama4, Ichizo Nishino3 (1.Department of Pediatrics, University of Tokyo,Tokyo,Japan, 2.Department of Pediatrics, National Rehabilitation Center for Children with D isabilities, Tokyo, Japan, 3.Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4.Diagnostics and Therapeutics of Intractable Disease, Intractable Disease Res earch Center,Juntendo University Faculty of Medicine)
[P2-02]A case of delayed closure of the anterior fontanelle associated with pathological variants in PTEN and BMP2
○Kaori Konno1,2, Kaori Konno1, Yukiko Osawa1, Tomohiro Nagata1, Kumiko Yanagi2, Tadashi Kaname2, Toshimasa Obonai1 (1.Tokyo metropolitan Tama-Hokubu Medical Center, Higashimurayamashi, Tokyo, Japan, 2.National Center for Child Health and Development, Setagaya Ward, Tokyo)
[P2-03]A case of Menkes disease with the broad white matter lesions in the bilateral temporal lobe in early infancy
○Satoshi Akamine, Kenta Kajiwara, Chong Pin Fee, Yasunari Sakai, Shouichi Ohga (Department of Pediatrics, Kyushu University Hospital, Fukuoka, Japan)
[P2-04]A girl case of Williams syndrome with West syndrome ~ multi professional support for her eating disorder
○Isao Sakai, Kaho Maeda, Masaki Ikeda, Makoto Nishibatake (Kagoshima Seikyou Hospital,Kagoshima city,Japan)
[P2-05]A Case Report of Xia-Gibbs Syndrome Caused by a Novel Frameshift Mutation in AHDC1
○Hironao Shirai1,2, Keiko Shimojima3,4, Yoshiki Oitani5, 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, kanagawa, Japan, 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, 5.Department of Pediatrics, Tokyo Women's Medical University Adachi Medical Center, Tokyo, Japan)
[P2-06]Long-term survival case of molybdenum cofactor deficiency with MOCS1 homozygous variant
○Aritomo Kawashima1, Saki Uneoka1, Miki Ikeda1, Yu Katata1, Wakaba Endo1, Takehiko Inui1, Noriko Togashi1, Atsuo Kikuchi2, Kazuhiro Haginoya1 (1.Department of Pediatric neurology, Miyagi children's hospital, Sendai, Miyagi, Japan, 2.Department of Pediatrics, University of Tohoku, Sendai, Miyagi, Japan)
[P2-07]A case of EIF2AK2 related disorder with temporary neurologic regression caused by influenza
○Yasuhiro Kawai1, Azusa Ikeda2, Yoko Saito1, Koki Nagai1, Ruriko Tachioka1, Tomoko Nishikawa1, Takuya Naruto3, Tomohide Goto2, Yukiko Kuroda1, Kenji Kurosawa1 (1.Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan, 2.Division of Neurology, Kanagawa Children's Medical Center, Yokohama, Japan, 3.Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan)
[P2-08]A male case of Christianson syndrome with tandem duplication of the region including exon 2 of the SLC9A6 gene
○Yasuhiro Kimoto1, Kotaro Kojima1, Norihiko Mori1, Kozue Mori1, Kennichi Maeda1, Noriko Hidaka1, Masanori Fujimoto2, Yosuke Nishio2,3, Tomoo Ogi3, Shinji Saito2, Hiroshi Moritake1 (1.The Department of Pediatrics, School of Medicine, University of Miyazaki, Miyazaki, Japan, 2.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 3.Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan)
[P2-09]A case of diabetes, ventricular tachycardia, and decline in cardiac function caused by SMPD4 gene abnormality.
○Takato Akiba1,2, Shimada Shino1,2,3, Akimi Ishikawa1, Ken Takahashi1,2, Kanato Iwahara2, Ayaka Hamahara1, Shinpei Matsuda1,2, Toshiyuki Yoneyama1, Mitsuru Ikeno1,2, Shinpei Abe1,2, Hiromichi Shoji2, Kenjiro Kosaki4 (1.Department of Pediatrics, Juntendo University Urayasu Hospital, 2.Juntendo University Graduate School of Medicine, Pediatrics and Adolescent Medicine, 3.Department of Clinical Genetics, Juntendo University, Graduate School of Medicine, Japan, 4.Center for Medical Genetics, Keio University School of Medicine)
[P2-10]Cervical endodermal cyst in a 16-year-old with Cornelia de Lange syndrome
○Tadanobu Teno1, Yukiho Shibata1, Satoi Ni1, Haruko Sakamoto1, Hisanori Fujino1, Yuki Kinoshita4, Takaki Sakurai3, Kenji Hashimoto2, Takeshi Kawauchi2 (1.Department of Pedeatrics, Osaka Red Cross Hospital, Osaka, Japan, 2.Department of Neurosurgery, Osaka Red Cross Hospital, Osaka, Japan, 3.Department of Diagnostic Pathology, Osaka Red Cross Hospital, Osaka, Japan, 4.Department of General Internal Medicine, Osaka Red Cross Hospital, Osaka, Japan)
[P2-11]A boy with a novel variant in the ANO3 gene with developmental regression and ataxia
○Kaoru Eto1,2, Tomofusa Nagata1, Takuya Ookawa2, Yuya Sato2, Tomoe Yanagishita2, Yoshiki Oitani1, Hidetsugu Nakatsukasa2, Susumu Ito2, Hisafumi Matsuoka1, Toshiyuki Yamamoto3, Satoru Nagata2 (1.Tokyo Women's Medical University, Adachi Medical Center, Department of Pediatrics, 2.Tokyo Women's Medical University, Department of Pediatrics, 3.Tokyo Women's Medical University, Institute of Clinical Genomics)