The 70th Annual Meeting of the Japan Society of Human Genetics
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Session Details

Oral Session

[O04]Oral Session 4　Pediatric Genetics 1

Thu. Dec 18, 2025 11:10 AM - 12:00 PM JST
Thu. Dec 18, 2025 2:10 AM - 3:00 AM UTC
Room 5 (311+312, 3F, PACIFICO Yokohama)
Chairs：Sumito Dateki（Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences）／Yu Yamaguchi（Department of Clinial Genetics, Gunma Children’s Medical Center）

[O4-1]Clinical delineation and mouse modeling of Noonan syndrome with autosomal dominant LZTR1 variants

Yoko Aoki1, Kaho Morisaki1, Nobuhiko Okamoto2, Tetsuya Niihori1, Miho Terao3, Shuji Takada3, Taiki Abe1 (1.Department of Medical Genetics, Tohoku University Graduate School of Medicine, Sendai, Japan, 2.Department of Medical Genetics, Osaka Womenʼs and Childrenʼs Hospital, Izumi, Japan, 3.Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan)

[O4-2]Identification of a hemizygous OCA2 variant in a neonate with oculocutaneous albinism and Prader-Willi syndrome

Sumito Dateki1,2, Chiaki Murakami2, Haruka Kawamura2, Kohei Haraguchi2, Midori Motokawa2 (1.Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan, 2.Department of Pediatrics, Nagasaki University Hospital)

[O4-3]Meta-Analysis of iPSC-based Transient abnormal myelopoiesis model identifies GATA1 mutation induces elevation of CEBPA

Tatsuro Kumaki1, Yoko Nishinaka-Arai1,2, Yoko Kitagawa1, Akira Niwa1, Megumu K. Saito1 (1.Department of Clinical Application, Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan, 2.Department of Human Health Sciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan)

[O4-4]Dental abnormality is a useful indicator for early diagnosis of familial adenomatous polyposis

Kyoko Moritani1, Yuzuki Ooki1, Erina Ozaki2, Minenori Ishimae1, Mariko Eguchi1,2 (1.Department of Pediatrics, Ehime University Hospital, Toon, Japan, 2.Division of Medical Genetics, Ehime University Hospital, Toon, Japan)

[O4-5]Comprehensive Molecular Studies in 88 Japanese Patients With Congenital Hypogonadotropic Hypogonadism

Wataru Tanikawa1, Shingo Okamoto2, Osamu Ohara3, Yasuko Fujisawa1, Ibuki Ohyama1, Hirotomo Saitsu4, Maki Fukami5, Tadashi Kaname6, Tsutomu Ogata1,4,7 (1.Department of Pediatrics, Hamamatsu University of Medicine, Hamamatsu, Japan, 2.Okamoto Internal Medicine and Pediatrics Clinic, Sakurai, Japan, 3.Kazusa DNA Research Institute, Kisarazu, Chiba, Japan, 4.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 5.Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan, 6.Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan, 7.Department of Pediatrics, Hamamatsu Medical Center, Hamamatsu, Japan)
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