Session Details
[OE8]Oral English Session 8 Metabolic and Mitochondrial Disorders, Pediatric Genetics
Sat. Oct 12, 2024 10:00 AM - 10:50 AM JST
Sat. Oct 12, 2024 1:00 AM - 1:50 AM UTC
Sat. Oct 12, 2024 1:00 AM - 1:50 AM UTC
Room 5(Highness Hall, 2F)
Chairs:Yoko Aoki(Department of Medical Genetics, Tohoku University School of Medicine), Motomichi Kosuga(National Center for Child Health and Development)
[OE8-1]Genome sequencing narrows the diagnostic gap of undiagnosed diseases with inconclusive results through exome sequencing
○Yosuke Nishio1,2,3,4, Yuka Murofushi4, Seiji Mizuno5, Hiromi Nyuzuki6, Tomomi Nakamura7, Hidefumi Tonoki8, Mie Inaba5, Takahiro Yonekawa7, Hideki Muramatsu3, Aki Ishikawa9, Taichi Oso1,2, Yuka Nakazawa1,2, Oka Yasuyoshi1,2, Takeshi Ikeuchi6, Akihiro Sakurai9, Tomohiko Ichikawa10, Takahiro Yamada11, Shinji Saitoh4, Yoshiyuki Takahashi3, Tomoo Ogi1,2 (1.Department of Genetics, Research Institute of Environmental Medicine (RIeM), Nagoya University, Nagoya, Japan, 2.Department of Human Genetics and Molecular Biology, Nagoya University Graduate School of Medicine, Nagoya, Japan, 3.Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan, 4.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan, 5.Department of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan, 6.Center for Medical Genetics, Niigata University Medical and Dental Hospital, Niigata, Japan, 7.Department of Pediatrics, Mie University Graduate School of Medicine, Tsu, Japan, 8.Medical Genetics Center, Tenshi Hospital, Sapporo, Japan, 9.Department of Medical Genetics and Genomics, Sapporo Medical University School of Medicine, Sapporo, Japan, 10.Division of Clinical Genetics, Chiba University Hospital, Chiba, Japan, 11.Division of Clinical Genetics, Hokkaido University Hospital, Sapporo, Japan)
[OE8-2]MYCN enhances upper-layer neuron generation in the human brain by increasing outer radial glia cells
○Masanori Fujimoto1, Yuji Nakamura1, Issei Shimada2, Emi Sato1, Toshihiko Iwaki1, Daisuke Ieda1, Yutaka Negishi1, Ayako Hattori1, Hiroki Okumura3, Yuko Arioka3, Hiroshi Ozawa4, Norio Ozaki3, Kato Yoichi2, Shinji Saitoh1 (1.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Aichi, Japan, 2.Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Aichi, Japan, 3.Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, Aichi, Japan, 4.Department of Pediatrics, Shimada Ryoiku Center Hachiouji, Tokyo, Japan)
[OE8-3]Prognosis and Genetic Background of 409 Pediatric Mitochondrial Disease Patients
○Atsuko Okazaki1, Ayako Matsunaga2, Yukiko Yatsuka1, Ayumu Sugiura1, Yoshihito Kishita3, Yohei Sugiyama4, Takuya Fushimi5, Masaru Shimura5, Keiko Ichimoto5, Makiko Tajika5, Tomohiro Ebihara6, Tetsuro Matsuhashi5, Tsuruoka Tomoko6, Akira Ohtake7, Kei Murayama1,5, Yasushi Okazaki1 (1.Diagnostics and Therapeutics of Intractable Diseases, Juntendo University, Graduate School of Medicine, Tokyo, Japan, 2.Department of Pediatrics, St. Marianna University School of Medicine, Kanagawa, Japan, 3.Department of Life Science, Faculty of Science and Engineering, Kindai University, Osaka, Japan, 4.Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan, 5.Department of Metabolism, Chiba Children's Hospital, Chiba, Japan, 6.Department of Neonatology, Chiba Children's Hospital, Chiba, Japan, 7.Department of Pediatrics & Clinical Genomics, Faculty of Medicine, Saitama Medical University, Saitama, Japan)
[OE8-4]A genetic and functional analyses in a girl with Menkes disease caused by skewed X-chromosome inactivation
○Naoko Yano1, Takeshi Yoshida1, Satoshi Kajimoto1, Taisei Kayaki1, Kinuko Nishikawa1, Kengo Kora1, Saeko Sasaki1, Atsushi Yokoyama1, Chie Fujisawa2, Yasuhiro Sato3, Tadashi Kaname4, Hiroko Kodama5, Takita Junko1 (1.Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan, 2.Department of Research unit, School of Medicine, Faculty of Medicine, Toho University, Tokyo, Japan, 3.Department of Pediatrics, Teikyo University School of Medicine Graduate School of Medicine, Tokyo, Japan, 4.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 5.Course on Research for Nutrition and Growth, Teikyo Heisei University, Tokyo, Japan)
[OE8-5]Functional polymorphisms in CCR6 associated with Primary Biliary Cholangitis
○Mingming Zhang1, Zhuye Qin2, Yexi Huang1, You Li3, Chan Wang4, Xingjuan Shi1, Yaping Dai5, M. Eric Gershwin6, Meilin Wang7, Weichang Chen8, Fang Qiu9, Xiangdong Liu1 (1.School of Life Science and Technology, Southeast University, 2.Southeast University Hospital, Southeast University, 3.Shanghai Institute of Digestive Diseases, Shanghai Jiao Tong University School of Medicine Affiliated Renji Hospital, 4.Medical College, Yangzhou University, 5.Department of Laboratory Medicine, The Fifth People’s Hospital of Wuxi, 6.Allergy and Clinical Immunology, University of California at Davis School of Medicine, 7.School of Public Health, Nanjing Medical University, 8.Department of Gastroenterology, The First Affiliated Hospital of Soochow University, 9.Department of Laboratory Medicine, The Fourth Affiliated Hospital of Nanjing Medical University)