Session Details

[O5]Oral Session 5 Rare Diseases

Thu. Oct 10, 2024 9:30 AM - 10:20 AM JST
Thu. Oct 10, 2024 12:30 AM - 1:20 AM UTC
Room 6(Castle, 1F)
Chairs:Kenji Shimizu(Shizuoka Children’s Hospital), Yoriko Watanabe(Research Institute of Medical Mass Spectrometry, and Department Pediatrics and Child Health)

[O5-1]X-Linked Hypophosphatemia with complex inverted duplication of intra PHEX gene

Yuri Uchiyama1,2, Yuichi Takashi3, Eriko Koshimizu2, Naomi Tsuchida1,2, Atsushi Fujita2, Satoko Miyatake2,4, Takeshi Mizuguchi2, Daiji Kawanami3, Naomichi Matsumoto1,2,4 (1.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 2.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 3.Department of Endocrinology and Diabetes, Fukuoka University School of Medicine, Fukuoka, Japan, 4.Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan)

[O5-2]Functional analysis of loss-of-function biallelic RINT1 variants responsible for infantile recurrent liver dysfunction

Taiga Aoki1,2, Arisa Igarashi1, Kumiko Yanagi1, Masahiko Yamamori1, Takaya Iida1, Yumi Enomoto1, Nana Kobayashi1, Yukimi Abe1, Yoichi Matsubara1, Tadashi Kaname1,2 (1.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 2.Allergy Center, National Center for Child Health and Development, Tokyo, Japan)

[O5-3]Two patterns of phenotype in patients with Snijders Blok Campeau syndrome and behavior test using zebrafish model

Yumi Enomoto1, Takashi Shiromizu2,3, Sakyo Yasojima2, Junko Koiwa2, Yukiko Kuroda1,4, Hiroaki Murakami4, Takuya Naruto1, Yuhei Nishimura2,3, Kenji Kurosawa1,4 (1.Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan, 2.Department of Integrative Pharmacology, Graduate School of Medicine, Mie University, Tsu, Japan, 3.Mie University Research Center for Cilia and Diseases, Tsu, Japan, 4.Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan)

[O5-4]The impact of variant annotations on the diagnostic yield of genetic analysis for rare neurological diseases

Kazuyuki Komatsu1, Mitsuhiro Kato2, Sachiko Miyamoto1, Kaori Yamoto1, Takuya Hiraide3, Kazuki Watanabe4, Shogo Furukawa1, Taiju Hayashi1, Mayu Isogai1, Takuma Harasaki1, Mitsuko Nakashima1, Hirotomo Saitsu1 (1.Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan, 2.Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan, 3.Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan, 4.First Department of Medicine/Department of Neurology, Hamamatsu University School of Medicine, Hamamatsu, Japan)

[O5-5]Rare variant in the NR5A1 gene causing 46,XY complete gonadal dysgenesis with a non-communicating rudimentary uterus

Toru Sasaki1, Shinji Suzuki2, Masanori Ono1, Akiko Yamamoto1, Masato Bingo3,4, Gaku Yamanaka2, Masahiko Kuroda5, Natsuko Inagaki3,6, Hirotaka Nishi1 (1.Department of Obstetrics and Gynecology, Tokyo Medical University, Tokyo, Japan, 2.Department of Pediatrics, Tokyo Medical University, Tokyo, Japan, 3.Department of Clinical Genetics Center, Tokyo Medical University, Tokyo, Japan, 4.Department of Laboratory Medicine, Tokyo Medical University, Tokyo, Japan, 5.Department of Molecular Pathology, Tokyo Medical University, Tokyo, Japan, 6.Department of Cardiology, Tokyo Medical University, Tokyo, Japan)