Session Details

[O7]Oral Session 7 Pediatric Genetics

Fri. Oct 11, 2024 9:00 AM - 9:50 AM JST
Fri. Oct 11, 2024 12:00 AM - 12:50 AM UTC
Room 6(Castle, 1F)
Chairs:Yoshio Makita(Department of Genetic Counseling, Asahikawa Medical University Hospital), Yukiko Kuroda(Division of Medical Genetics, Kanagawa Children’s Medical Center)

[O7-1]Identification and analysis of loss-of-function variants in a repressor downstream ERK in Noonan syndrome

Yusuke Goto1,2, Tetsuya Niihori1, Nobuhiko Okamoto3, Tsutomu Ogata4, Seiji Mizuno5, Kenji Kurosawa6, Hirofumi Ohashi7, Yoichi Matsubara8, Atsuo Kikuchi2, Taiki Abe1, Yoko Aoki1 (1.Department of Medical Genetics, Tohoku University School of Medicine, Sendai, Japan, 2.Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan, 3.Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Japan, 4.Departments of Pediatrics and Biochemistry, Hamamatsu University of Medicine, Hamamatsu, Japan, 5.Department of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Aichi, Japan, 6.Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan, 7.Division of Medical Genetics, Saitama Children's Medical Center, Saitama, Japan, 8.National Center for Child Health and Development, Tokyo, Japan)

[O7-2]Exploring Unsolved Cases of Lissencephaly Spectrum: Integrating Exome and Genome Sequencing for Higher Diagnostic Yield

Shogo Furukawa1, Mitsuhiro Kato2, Akihiko Ishiyama3, Tomohiro Kumada4, Takeshi Yoshida5, Eri Takeshita3, Pin Fee Chong6, Hideo Yamanouchi7, Kazuo Abe8, Yuko Kotake9, Takayoshi Kyoda10, Toshihiro Nomura11, Miyata Yohane12, Mitsuko Nakashima1, Hirotomo Saitsu1 (1.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 2.Department of Pediatrics, Showa University School of Medicine, 3.Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4.Kumada kids-family clinic, 5.Department of Pediatrics, Kyoto University Graduate School of Medicine, 6.Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, 7.Department of Pediatrics, Saitama Medical University, Saitama, Japan, 8.Division of Neurology, Hyogo College of Medicine College Hospital, Nishinomiya, Japan, 9.Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan, 10.Children's Medical Center, Showa University Northern Yokohama Hospital, Yokohama, Japan, 11.Department of Pediatrics, Kawaguchi Municipal Medical Center, Saitama, Japan, 12.Department of Pediatrics, Kyorin University School of Medicine, Tokyo, Japan)

[O7-3]Identification of deep intronic variants affecting exonic splicing enhancers of ASNS gene by transcriptome sequencing

Takuya Naruto1, Yumi Enomoto2, Yoko Saito1, Yasuhiro Kawai1, Koki Nagai1, Tomoko Nisikawa1, Ruriko Tachioka1, Yukiko Kuroda1, Kenji Kurosawa1 (1.Kanagawa Children's Medical Center, Clinical Research Institute, 2.Kanagawa Children's Medical Center, Division of Medical Genetics)

[O7-4]Retrotransposon insertion in the FGFR1 gene is responsible for congenital hypogonadotropic hypogonadism

Yoko Kuroki1,2,3, Kentaro Sawano4, Erina Suzuki5, Yasuko Ogiwara5, Keisuke Nagasaki4, Maki Fukami5 (1.Department of Genome medicine, National Research Institute for Child Health and Development, Tokyo, Japan, 2.Div. of Collaborative Research, National Research Institute for Child Health and Development, 3.Div. of Diversity Research, National Research Institute for Child Health and Development, 4.Div. of Pediatrics, Department of Homeostatic Regulation and Development, Niigata University Graduate School of Medical and Dental Sciences, 5.Department of Molecular Endocrinology, National Research Institute for Child Health and Development)

[O7-5]NALCN regulate sodium leakage in SCN neurons and may affect Circadian Rhythms in CLIFHADD syndrome

Mari Tsukahara1, Daisuke Watanabe1,2, Hiromune Narusawa1, Yosuke Kono1, Fumikazu Sano1, Hideaki Yagasaki1, Toshiki Takenouchi3, Kenjiro Kosaki2, Takeshi Inukai1 (1.Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan, 2.Center for Medical Genetics, Keio University School of Medicine, 3.Department of Pediatrics, Keio University School of Medicine)