Session Details
[O16]Oral Session 16 Rare Diseases, Pediatric Genetics
Sat. Oct 12, 2024 2:25 PM - 3:15 PM JST
Sat. Oct 12, 2024 5:25 AM - 6:15 AM UTC
Sat. Oct 12, 2024 5:25 AM - 6:15 AM UTC
Room 6(Castle, 1F)
Chairs:Tetsuya Okazaki(Department of Clinical Genomic Medicine, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University), Aki Ishikawa(Department of Medical Genetics and Genomics, School of Medicine, Sapporo Medical University, Sapporo, Japan)
[O16-1]Whole Exome Sequencing Analysis in Fetal Osteogenesis Imperfecta Detected by Ultrasonography: An Analysis of 11 Cases
○Yuri Nakao1, Jin Muromoto1,2, Yuki Kakinuma1, Taiyo Oguro1, Rinko Ibi1, Chihiro Nishino1, Shin Mori1, Saho Fujino1, Akira Naomi1, Akiko Konishi1, Kazuhiro Kajiwara1, Tomo Suzuki1,2, Akaishi Rina1,2, Rika Sugibayashi1,2, Katsusuke Ozawa1,2, Aiko Sasaki1,2, Fuyuki Hasegawa2, Asuka Hori3,4, Kenichiro Hata5, Seiji Wada1,2 (1.Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, 2.Devision of Medical Genetics, National Center for Child Health and Development, 3.Department of Maternal-Fetal Biology, National Research Institute for Child Health and Development, 4.Nursing Department, Nippon Medical School Musashi Kosugi Hospital, 5.Department of Human Molecular Genetics, Gunma University Graduate School of Medicine)
[O16-2]Whole Genome Sequencing Diagnosis in NICU: Diagnostic Impact for Critically Ill Neonates at the Jikei University
○Erina Nagao1, Toshiki Tsunogai1, Naoya Saijou2, Eri Imagawa1, Atsuo Kikuchi2, Jun Takayama3, Kimihiko Oishi1 (1.Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan, 2.Department of Pediatrics, Tohoku University Hospital, 3.Department of Rare Disease Genomics, Tohoku University Graduate School of Medicine)
[O16-3]Developmental and epileptic encephalopathy caused by a novel ATP2B2 protein-truncating variant
○Hiroshi Matsumoto1,2, Kiyotaka Zaha2, Kenji Uematsu2, Mitsuko Nakashima3, Hirotomo Saitsu3, Takeshi Mizuguchi4, Naomichi Matsumoto4 (1.Department of Pediatrics, Saitama Medical University, Moroyama-machi, Japan, 2.Department of Pediatrics, National Defense Medical College, Tokorozawa, Japan, 3.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 4.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)
[O16-4]National Survey of Hutchinson-Gilford Progeria Syndrome and Progeroid laminopathy in Japan
○Yuko Okawa1, Kenji Ihara1, Rika Kosaki2, Muneaki Matsuo3 (1.Department of Pediatrics, Faculty of Medicine, Oita University, Yufu, Oita, Japan, 2.Department of Medical Genetics, National Research Institute for Child Health and Development, Tokyo, Japan, 3.Department of Pediatrics, Faculty of Medicine, Saga University, Saga, Japan)
[O16-5]Establishment of seamless medical care from childhood to adulthood for patients with genetic diseases
○Makiko Tominaga1,2, Ayano Sakurai1, Ayumi Okuyama1,3, Mikiko Izumi1,4, Kiyotake Ichizuka1,3, Akiko Sakashita1 (1.Showa University Northern Yokohama Hospital, Center for Clinical Genetics and Genomic Medicine, Kanagawa, Japan, 2.Showa University Northern Yokohama Hospital, Children's Center, 3.Showa University Northern Yokohama Hospital, obstetrics and gynecology, 4.Showa University Hospital, Center for Clinical Genetics)