International Session(Platform Presentation)

[IO1] English Session 1

Fri. May 31, 2024 9:40 AM - 10:40 AM Room7 (Bldg.2 3F 232＋233)

Organizer:Shinji Saitoh(Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences),Mariko Ikeda(Department of Clinical Genetics, Fujita Health University Hospital)

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[IO1-1] A case of hereditary spastic paraplegia with psychiatric comorbidities due to deletion in 2p22.3p23.1

^○Daisuke Sawada^1,2, Chihiro Saito¹, Tomoko Uchida¹, Hajime Ikehara¹, Shoko Yoshii¹, Sho Hagiwara¹, Natsumi Watanabe², Emi Utsuno², Tadashi Shiohama¹, Katsunori Fujii^1,3, Tomohiko Ichikawa², Hiromichi Hamada¹ (1.Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan, 2.Division of Clinical Genetics, Chiba University Hospital, Chiba, Japan, 3.Department of Pediatrics, International University of Welfare and Health School of Medicine, Narita, Japan)

[IO1-2] Early fetal phenotype of Joubert syndrome in 12-16 weeks of gestation

^○Ritsuko K. Pooh^1,2, Osamu Shimokawa², Megumi Machida¹ (1.Fetal Brain Center, CRIFM Prenatal Medical Clinic, Osaka, Japan, 2.Department of Clinical Research, Ritz Medical Co.,Ltd., Osaka, Japan)

[IO1-3] PHF21A Related Disorder with intellectual disability: a case report of an 11-year-old female

^○Kyoko Hoshino^1,2, Genkichi Izumi¹, Eriko Nishi³, Kumiko Yanagi⁴, Tadashi Kaname⁴, Yasuhiro Suzuki⁵, Nobuhiko Okamoto³ (1.Department of Pediatric Neurology, National Hospital Organization Minami Wakayama Medical Center, Wakayama, Japan, 2.Segawa Memorial Neurological Clinic for Children, Tokyo, Japan, 3.Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan, 4.Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan, 5.Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Osaka, Japan)

[IO1-4] An adolescent case of ASXL3-related disorder with delayed onset of feeding difficulty

^○Yuto Arai¹, Tohru Okanishi¹, Tetsuya Okazaki², Rie Sayama³, Yuri Uchiyama³, Naomichi Matsumoto³, Yoshihiro Maegaki¹ (1.Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan, 2.Department of Clinical Genetics, Tottori University Hospital, Yonago, Japan., 3.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)

[IO1-5] Loss of SZT2 leads to hyperactivation of mTORC1 in human brain organoids

^○Emi Sato¹, Yuji Nakamura^1,2, Masanori Fujimoto¹, Issei S. Shimada³, Toshihiko Iwaki¹, Daisuke Ieda¹, Yutaka Negishi¹, Ayako Hattori¹, Yoichi Kato³, Shinji Saitoh¹ (1.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya,Japan, 2.Department of Neurosciences, University of California San Diego, CA, United States, 3.Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan)

[IO1-6] Gain-of-function MYCN controls cell death and proliferation, leading to macrocephaly

^○Masanori Fujimoto¹, Yuji Nakamura¹, Issei S. Shimada², Emi Sato¹, Toshihiko Iwaki¹, Daisuke Ieda¹, Yutaka Negishi¹, Ayako Hattori¹, Hiroki Okumura³, Yuko Arioka³, Hiroshi Ozawa⁴, Norio Ozaki³, Yoichi Kato², Shinji Saitoh¹ (1.Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, 2.Department of Cell Biology, Nagoya City University Graduate School of Medical Sciences, 3.Pathophysiology of Mental Disorders, Nagoya University Graduate School of Medicine, 4.Department of Pediatrics, Shimada Ryoiku Center Hachiouji)

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