Session Details

[P2-02]Poster Session 2-02 Pediatric Genetics 2

Fri. Dec 19, 2025 5:50 PM - 6:50 PM JST
Fri. Dec 19, 2025 8:50 AM - 9:50 AM UTC
Poster Room 1 (301+302, 3F, PACIFICO Yokohama)

[P2-02-1]A Japanese individual with Bryant-Li-Bhoj neurodevelopmental syndrome due to a de novo H3-3A pathogenic variant

Eriko Nishi1, Kumiko Yanagi2, Tadashi Kaname2, Nobuhiko Okamoto1 (1.Department of Medical Genetics, Osaka Womenʼs and Childrenʼs Hospital, Osaka, Japan, 2.Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan)

[P2-02-2]First case of Independent Walking in Osteogenesis Imperfecta with IFITM5 Missense Variant following Neonatal Pamidronate

Kairi Tsuura1, Yosuke Ichihashi1, Kaho Hattori1, Satsuki Nakano1,2, Takeshi Sato1, Tomohiro Ishii1,3, Tomonobu Hasegawa1,4, Satoshi Narumi1 (1.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan, 2.Department of Pediatrics, Saitama City Hospital, Tokyo, Japan, 3.Division of Endocrinology and Metabolism, Tokyo Metropolitan Childrenʼs Medical Center, Tokyo, Japan, 4.Kashiwa Tanaka Hospital, Tokyo, Japan)

[P2-02-3]MYT1L partial duplication without a NF1 whole gene deletion in a case with intellectual disability

Ryojun Takeda1,2, Miyu Ito3, Tomomi Yamaguchi4,5,6, Tomoki Kosho1,4,5,6,7,8 (1.Department of Medical Genetics, Nagano Childrenʼs Hospital, Azumino, Japan, 2.Life Science Research Center, Nagano Childrenʼs Hospital, Azumino, Japan, 3.Department of Laboratory Medicine, Nagano Childrenʼs Hospital, Azumino, Japan, 4.Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, 5.Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 6.Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan, 7.Research Center for Advanced Science and Technology, Shinshu University, Matsumoto, Japan, 8.BioBank Shinshu, Shinshu University Hospital, Matsumoto, Japan)

[P2-02-4]A Prospective Birth Cohort Study of the PHKA2 p.G991A Variant and Hypoglycemia in Early Childhood

Hana Eto1, Mai Mori1,2, Yasuhiko Ago1, Hiroki Kawai1, Hideki Matsumoto1, Hideo Sasai1,2,3, Tomohiro Hori1,2, Norio Kawamoto1, Sayumi Takahashi4, Tomotake Iwasa4, Hidenori Ohnishi1,2,5 (1.Department of Pediatrics, Graduate School of Medicine, Gifu University, Gifu, Japan, 2.Clinical Genetics Center, Gifu University Hospital, Gifu, Japan, 3.Department of Early Diagnosis and Preventive Medicine for Rare Intractable Pediatric Diseases, Graduate School of Medicine, Gifu University, Gifu, Japan, 4.Iwasa Hospital / Iwasa Maternity, Gifu, Japan, 5.Laboratory of Intractable and Rare Diseases, Graduate School of Medicine, Gifu University, Gifu, Japan)

[P2-02-5]A novel MSX2 variant leading to co-occurrence of craniosynostosis and parietal foramina

Yasuhiro Kawai1, Tomoko Hayashi2, Koki Nagai1, Ruriko Tachioka1, Tomoko Nishikawa1, Takuya Naruto3, Yukiko Kuroda1 (1.Division of Medical Genetics, Kanagawa Childrenʼs Medical Center, Yokohama, Japan, 2.Division of Neurosurgery, Kanagawa Childrenʼs Medical Center, Yokohama, Japan, 3.Clinical Research Institute, Kanagawa Childrenʼs Medical Center, Yokohama, Japan)

[P2-02-6]Generalized epilepsy as a neurological phenotype in a girl with 48, XXXX

Yuri Sonoda1,2, Satomi Ideo2, Kohei Kadota2, Kenji Furuno1, Taro Nagatomo1 (1.Department of Pediatrics, Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan, 2.Department of Genomic Medicine Promotion, Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan)

[P2-02-7]TRAPPC12-related Childhood Encephalopathy with Dysmorphic Features Caused by Two Novel TRAPPC12 Frameshift Variants

Kentaro Fukuda1, Mariko Endo1, Yuri Yoshida1, Shiho Ito1, Chiharu Suda1, Haruka Yamanaka1, Hiroshi Futagawa1, Nanako Kawata2, Mikako Enokizono3, Hiroshi Yoshihashi1 (1.Department of Clinical Genetics, Tokyo Metropolitan Childrenʼs Medical Center, 2.Department of Neurology, Tokyo Metropolitan Childrenʼs Medical Center, 3.Department of Radiology, Tokyo Metropolitan Childrenʼs Medical Center)

[P2-02-8]Intragenic duplication of PHEX in a girl with X-linked hypophosphatemia: a case report with review of literature

Kazuhisa Akiba1, Keiko Matsubara1,2, Atsushi Hattori1, Maki Fukami1 (1.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan, 2.Division of Diversity Research, National Research Institute for Child Health and Development, Tokyo, Japan)

[P2-02-9]2p25.3 Deletion and 2p25.3-p24.2 Duplication with MYCN-DDX1 in an Infant Requiring Tumor Surveillance

Yuya Aoto1,2, Naoya Morisada2, Maki Tahiguchi2, Momoka Yoshimura1, Tomohito Hotokezaka1, Chika Ueda1, Kengo Nakashima1, Natsuki Momo1, Tsukasa Tanaka1, Kenji Kuroe3, Takeshi Ninchoji1 (1.Hyogo Prefectural Harima-Himeji General Medical Center, Himeji, Japan, 2.Department of Clinical Genetics, Hyogo Prefectural Kobe Childrenʼs Hospital, 3.Kuroe Mokumoku Clinic)

[P2-02-10]Genetic background of patients with CAKUT and developmental delay

Takaharu Yamada (Department of Pediatrics, Japanese Red Cross Aichi Medical Center Nagoya Daini Hospital, Nagoya, Japan)

[P2-02-11]Utilization and limitations of genetic testing for long QT syndrome in general pediatric practice

Mari Saito1,2 (1.Department of Pediatrics, Haga Red Cross Hospital, Tochigi, Japan, 2.Department of Pediatrics, Jichi Medical University, Tochigi, Japan)

[P2-02-12]COL1A1 C-propeptide variant p.Tyr1408Cys potentially altering disulfide bond causes osteogenesis imperfecta type 3

Daisuke Watanabe1, Nobuyuki Katsumata1, Tomohiro Saito2, Reina Murasawa1, Reika Hagino2, Yasushi Murakami1, Tamao Shinohara1, Yuki Maebayashi1, Atsushi Nemoto1, Atsushi Naitoh1 (1.Department of Neonatology, Perinatal Center, Yamanashi Prefectural Central Hospital, Yamanashi, Japan, 2.Department of Pediatrics, Yamanashi Prefectural Hospital, Yamanashi, Japan)

[P2-02-13]Complex Congenital Heart Defects in White-Sutton Syndrome: A Case of Tetralogy of Fallot and Pulmonary Valve Agenesis

Saho Honjo1, Yoko Hoshino1, Aki Ishikawa2 (1.Hokkaido Medical Center for Child Health and Rehabilitation, 2.Sapporo Medical University Hospital)