Session Details
[P1-03]Poster Session 1-03 Pediatric Genetics 1
Thu. Dec 18, 2025 6:00 PM - 7:00 PM JST
Thu. Dec 18, 2025 9:00 AM - 10:00 AM UTC
Thu. Dec 18, 2025 9:00 AM - 10:00 AM UTC
Poster Room 1 (301+302, 3F, PACIFICO Yokohama)
[P1-03-1]OTC Deficiency with a Novel Variant: Utility of Genetic Diagnosis in Liver Transplantation Donor Selection
Haruka Tada1, Hiroko Fujita1, Tetsuya Okazaki1,2, Sachiyo Fukushima3, Taku Nakagawa1,3, Tomoaki Ioroi3, Akira Hirasawa1,2, Kyohei Kai1 (1.Department of Genetic Medicine, Japanese Red Cross Society, Himeji Hospital, Hyogo, Japan, 2.Department of Clinical Genetic Medicine, Okayama University Hospital, Okayama, Japan, 3.Department of Pediatrics, Japanese Red Cross Society, Himeji Hospital, Hyogo, Japan)
[P1-03-2]A novel combination of compound heterozygous AMPD2 variants in a Japanese girl with Pontocerebellar Hypoplasia Type 9
Shuhei Dohi1, Junko Hotta1,2, Kosuke Ito2, Tomoyo Yamashita1,2, Chie Ono2, Toshiyuki Seto1,2, Takashi Hamazaki1 (1.Department of Pediatrics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan, 2.Department of Medical Genetics, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan)
[P1-03-3]Growth failure and neurodevelopmental delay caused by loss-of-function mutations in ACTB
Keiko Shimojima1,2, Takeaki Tamura3, Nobuhiko Nagano3, Ichiro Morioka3, Toshiyuki Yamamoto4 (1.Department of Transfusion Medicine and Cell Processing, Tokyo Womenʼs Medical University, Tokyo, Japan, 2.Institute of Medical Genetics, Tokyo Womenʼs Medical University, Tokyo, Japan, 3.Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan, 4.Division of Gene Medicine, Graduate School of Medical Science, Tokyo Womenʼs Medical University, Tokyo, Japan)
[P1-03-4]Identification of Pathogenic NF1 Variants Provides Valuable Information for Follow-Up
Rie Kawakita1, Takahiro Hayashi1,2, Shinsuke Ninomiya2 (1.Department of Pediatrics, Kurashiki Central Hospital, 2.Department of Medical Genetics, Kurashiki Central Hospital)
[P1-03-5]Unexpectedly Mild Clinical Features in a Patient with a Nonsense Variant in the N-terminal Clamp Domain of POLR1A
Risako Ishioka, Masanori Fujimoto, Yuka Murofushi, Daisuke Ieda, Yutaka Negishi, Ayako Hattori, Shinji Saitoh (Nagoya City University, Graduate School of Medical Science, Department of Pediatrics and Neonatology, Japan)
[P1-03-6]Expanding the Clinical Spectrum of CAD Deficiency: Functional and Clinical Insights from Novel Missense Variants
Yoko Nakajima1, Asahito Hama2, Manabu Wakamatsu3, Yuta Sudo1, Yasuaki Yasuda1, Hideki Muramatsu3, Tetsuya Ito1 (1.Department of Pediatrics, Fujita Health University School of Medicine, Japan, 2.Department of Hematology and Oncology, Childrenʼs Medical Center, Japanese Red Cross Aichi Medical Center Nagoya First Hospital, Nagoya, Japan, 3.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan)
[P1-03-7]Assessment of Quality of Life Before and After Transition Clinic Visits in Patients with Genetic Disorders Using SEIQoL
Miho Osako (Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled)
[P1-03-8]Clinical manifestations of a patient with derivative chromosomes involving 13q33-q34 subtelomeric microdeletion
Takeaki Tamura, Nobuhiko Nagano, Ichiro Morioka (Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan)
[P1-03-9]A case of Beare-Stevenson cutis gyrata syndrome complicated with intestine malrotation
Mariko Hida1,2 (1.Department of Neonatology, Saitama City Hospital, 2.Department of Pediatrics, Keio University School of Medicine)
[P1-03-10]A Case of a Patient with TUBB4A Variant Presenting with Isolated Cerebellar Atrophy without Hypomyelination
Arisa Nakamura1, Kentaro Shirai1, Koji Takahashi1, Hironao Shirai3, Keiko Shimojima2,3,5, Junichi Takanashi4, Toshiyuki Yamamoto2,3 (1.Department of Pediatrics, Tsuchiura, Japan, 2.Institute of Medical Genetics, Tokyo Womenʼs Medical University, Tokyo, Japan, 3.Division of Gene Medicine, Graduate School of Medical Science , Tokyo Womenʼs Medical University, Tokyo, Japan, 4.Department of Pediatrics and Pediatric Neurology, Tokyo Womenʼs Medical University Yachiyo Medical Center, Chiba, Japan, 5.Transfusion Medicine and Cell Processing, Tokyo Womenʼs Medical University, Tokyo, Japan)
[P1-03-11]Marked Macrocephaly and Developmental Delay in Early Childhood Leading to the Diagnosis of Cowden Syndrome
Kenichi Torii1, Masashi Miharu1, Kazuki Yamazawa2 (1.Department of Pediatrics, NHO Tokyo Medical Center, Tokyo, Japan, 2.Department of Medical Genetics, NHO Tokyo Medical Center, Tokyo, Japan)
[P1-03-12]A Case of a Novel Variant with High Pathogenic Potential Identified in a Patient Suspected of Pseudohypoparathyroidism
So Nagai1, Keiko Takahashi1, Naomi Araki1, Kazuteru Kitsuda2, Humio Takada1 (1.Department of Genetics, Kitasato University Hospital, Kanagawa, Japan, 2.Department of Pediatrics, Kitasato University School of Medicine)
[P1-03-13]A case of Macrocephaly and Developmental Delay with a Germline Pathogenic Variant in PIK3CA
Kosuke Nishida1, Naoya Morisada2, Chisako Aoki1, Hiroko Yonekawa1, Tomomi Nishida1, Atsushi Nishiyama1, Eiji Nanba1,3, Kunihiko Kaneda1, Kandai Nozu4 (1.Department of Medical Genetics, Kakogawa Central City Hospital, Hyogo, Japan, 2.Department of Clinical Genetics, Hyogo Prefectural Kobe Childrenʼs Hospital, 3.Ohtani Hospital, Seikenkai Medical Corporation, Okayama, Japan, 4.Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan)
[P1-03-14]A Familial Case of SOX10-Related Waardenburg Syndrome
Yu Yamaguchi1, Kanako Ueshima2, Eiichiro Watanabe3, Kouta Kaburagi4, Kenichi Maruyama4 (1.Department of Genetics, Gunma Childrenʼs Medical Center, Shibukawa, Japan, 2.Department of Hematology and Oncology, Kobe Childrenʼs Hospital, Kobe, Japan, 3.Department of General Pediatric and Hepatobiliary-Pancreatic Surgery, Kitasato University School of Medicine, Kanagawa, Japan, 4.Department of Neonatology, Gunma Childrenʼs Medical Center, Shibukawa, Japan)