Session Details

[PE4]Poster English Session 4 Clinical Genetics

Fri. Dec 16, 2022 5:30 PM - 6:30 PM JST
Fri. Dec 16, 2022 8:30 AM - 9:30 AM UTC
Poster Room 2(PE4)

[PE4-1]The utility of a multidisciplinary team to increase the diagnosis rate for Lynch syndrome after universal screening

Kyota Tatsuta1, Mayu Sakata1, Moriya Iwaizumi2, Risa Kojima3, Kosuke Sugiyama1, Tadahiro Kojima1, Toshiya Akai1, Katsunori Suzuki1, Kiyotaka Kurachi1, Hiroya Takeuchi1 (1.Department of Surgery, Hamamatsu University School of Medicine, 2.Department of Laboratory Medicine, Hamamatsu University School of Medicine, 3.Department of Genetic Medicine, Hamamatsu University School of Medicine)

[PE4-2]Prevalence of Huntington’s disease in South Korea changes by informatics

Kim Manho1, Lee Jeeyoung2 (1.Seoul National University Hospital, Seoul National University, College of Medicine, Seoul, South Korea, 2.Seoul National University, College of Medicine, Seoul, South Korea)

[PE4-3]Clinical characteristics of cerebral small vessel disease in pseudoxanthoma elasticum

Shoichiro Ando1, Masahiro Uemura1, Sho Kitahara1, Yutaka Homma2, Hitoshi Aizawa3, Akira Iwanaga4, Hiroyuki Murota4, Osamu Onodera1 (1.Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan, 2.Department of Neurology, Showa General Hospital, Tokyo, Japan, 3.Department of Neurology, Tokyo Medical University, Tokyo, Japan, 4.Department of Dermatology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan)

[PE4-4]Redefine Genetic Spectrum of Hereditary Sensory and Autonomic Neuropathy

Junhui Yuan, Yujiro Higuchi, Masahiro Ando, Eiji Matsuura, Akiko Yoshimura, Tomonori Nakamura, Yusuke Sakiyama, Hiroshi Takashima (Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan)

[PE4-5]Myotonic dystrophy diagnosed after gynecologic surgery

Kentaro Kai1, Tomonori Yamada1, Natsumi Fukano2, Mika Jikumaru3, Satoshi Eto1, Yukihide Kuribayashi2, Yasushi Kawano1 (1.Department of Obstetircs and Gynecology, Oita University Faculty of Medicine, Oita, Japan, 2.Department of Anesthesiology and Intensive Care Medicine, Faculty of Medicine, Oita University, Oita, Japan, 3.Department of Neurology, Faculty of Medicine, Oita University, Oita, Japan)

[PE4-6]Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy

Masamune Sakamoto1, Naomi Tsuchida1,2, Yuri Uchiyama1,2, Eriko Koshimizu1, Atsushi Fujita1, Kouhei Hamanaka1, Kazuharu Misawa1, Satoko Miyatake1,3, Takeshi Mizuguchi1, Noriko Miyake1,4, Naomichi Matsumoto1 (1.Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan, 2.Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan, 3.Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan, 4.Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan)

[PE4-7]Genetic heterogeneity in hyperlipidemia

Hsu Rai-Hseng1,2, Yang Feng-Jung3,4, Chien Yin-Hsiu1,2, Lee Ni-Chung1,2, Hwu Wuh-Liang1,2 (1.Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan, 2.Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan, 3.Department of Internal Medicine, National Taiwan University Hospital Yunlin Branch, Yunlin, Taiwan, 4.School of Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan)

[PE4-8]Diagnostic utility of the targeted next-generation sequencing panel test for suspicious genetic glomerular diseases

Kim Ji Hye1, Kang Hee Gyung2, Lee Hajeong1 (1.Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea, 2.Department of Pediatrics, Seoul National University Hospital, Seoul, Republic of Korea)

[PE4-9]MTTS 1 gene variant in 7 families with syndromic and non-syndromic hearing loss

Shujiro Minami1,2, Amina Kida1, Satomi Inoue2,3, Kiyomitsu Nara2, Hideki Mutai2, Kazuki Yamazawa3, Tatsuo Matsunaga2,3 (1.Department of Otolaryngology, National Hospital Organization Tokyo Medical Center, Tokyo, Japan, 2.Division of Hearing and Balance Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan, 3.Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan)

[PE4-10]A case report of SOX2 anophthalmia syndrome

Akane Kondo, Aki Nagao, Ayaka Tachibana, Mikio Morine, Kenji Hinokio, Tsuyako Iwai, Kazuhisa Maeda (Medical Genetics Center, Shikoku Medical Center for Children and Adults)