Session Details

[P1-02]Poster Session 1-02 Clinical Genetics 1

Thu. Oct 10, 2024 4:50 PM - 5:50 PM JST
Thu. Oct 10, 2024 7:50 AM - 8:50 AM UTC
Poster Room

[P1-02-1]IRUD provided accurate diagnosis and optimal treatment for patients with undiagnosed genetic diseases

Kyoko Moritani1, Yuzuki Ooki1, Takahiro Motoki1, Erina Ozaki2, Miho Nagata3, Yasuki Ishihara3,5, Yohei Miyashita3,4,5, Yoshihiro Asano3,4,5, Minenori Ishimae1, Mariko Eguchi1,2 (1.Department of Pediatrics, Ehime University Hospital,Toon,Japan, 2.Division of Medical Genetics,Ehime University Hospital,Toon,Japan, 3.Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, Japan, 4.Department of Genomic Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan, 5.Biobank, Open Innovation Center, National Cerebral and Cardiovascular Center, Osaka, Japan)

[P1-02-2]Prevalence of identifying carrier status through whole exome sequencing: a single institution experience

Daiju Oba, Yusuke Oguchi, Kenta Hasumi, Miyu Fukushima, Hiroyuki Kuramitsu, Miwako Kizumi, Hirofumi Ohashi (Division of Medical Genetics, Saitama Children's Medical Center)

[P1-02-3]Predictive genetic testing for late-onset, inherited neurological diseases in Japan: a case series of 40 clients

Makiko Egawa1,2, Kinya Ishikawa3, Eriko Takamine1,4, Sayako Takahashi1, Mariko Komine1, Hiroko Kohbata1, Maki Gau1, Taro Ishiguro3, Yusuke Ebana1, Masayuki Yoshida1 (1.Department of medical genetics, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan, 2.Department of Nutrition and Metabolism in Cardiovascular Disease, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan, 3.Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan, 4.Department of Precision Cancer Medicine, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan)

[P1-02-4]Reanalysis of cases previously analyzed by chromosomal microarray is useful

Keiko Wakui1,2, Motoko Kamiya2,3, Tomoki Kosho1,2,4, Kyoko Takano1,2 (1.Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan, 2.Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Japan, 3.Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan, 4.Division of Clinical Sequencing, Shinshu University School of Medicine, Matsumoto, Japan)

[P1-02-5]Role of genetic specialists in adult transition support for patients with childhood-onset genetic conditions

Miho Osako1,2, Mariko Komine1,3, Hironao Numabe1, Yoko Mochizuki2 (1.Department of Genetic Medicine, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, 2.Department of Neuroloy, Tokyo Metropolitan Kita Medical and Rehabilitation Center for the Disabled, 3.Department of Genetic Medicine, Tokyo Medical and Dental University Hospital)

[P1-02-6]Our Approach to Genetic Diagnosis and Management of Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

Yuko Yokohama1, Yoshio Makita2, Yasuhito Katou1, Mishie Tanino3, Sayaka Yuzawa3 (1.Department of Obstetrics and Gynecology, Asahikawa Medical University, 2.Department of Genetic Counseling, Asahikawa Medical University Hospital, 3.Department of Diagnostic Pathology, Asahikawa Medical University Hospital)

[P1-02-7]Lynch Syndrome Universal Screening Initiative at a City Hospital

Takahiro Yoshioka, Ryo Inada, Ryosuke Tsunemitsu, Tomohiko Yagi, Hiroaki Inoue, Kazuyuki Ooishi (Department of Gastroenterological Surgery, Kochi Health Sciences Center, Kochi, Japan)

[P1-02-8]" Reverse cascade genetic testing" of Fabry disease through expanded newborn screening

Rieko Kosugi1,2, Takabayashi Naoki1, Masashi Harazaki1,3, Fumi Kurebayashi1, Yasue Horiuchi1,4, Takeshi Usui1,4 (1.Department of Medical Genetics, Shizuoka General Hospital, Shizuoka, Japan, 2.Department of Diabetes and Endocrinology , Shizuoka General Hospital, Shizuoka, Japan, 3.Department of Pediatrics, Shizuoka General Hospital, Shizuoka, Japan, 4.Shizuoka Graduate University of Public Health , Shizuoka, Japan)

[P1-02-9]Glass syndrome derived from chromosomal breakage downstream region of SATB2

Keiko Shimojima Yamamoto1,2, Rina Shimomura2,3, Hiromichi Shoji4, Toshiyuki Yamamoto2,5 (1.Transfusion Medicine and Cell Processing, Tokyo Women's Medical University, Tokyo, Japan, 2.Division of Gene Medicine, Graduate School of Medicine, Tokyo Women's Medical University, Tokyo, Japan, 3.Department of Pediatrics, Tokyo Women's Medical University, Tokyo, Japan, 4.Department of Pediatrics, Juntendo University Faculty of Medicine, Tokyo, Japan, 5.Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan)

[P1-02-10]Atypical low-middle frequency hearing loss in a case with POU4F3 mutation

Kengo Oe1,2, Hiroshi Yamazaki1,2, Akiko Yoshida2, Akari Minamoto2, Shinobu Sato2, Mirei Taniguchi1,2 (1.Department of Otolaryngology-Head and Neck Surgery, Graduate School of Medicine, Kyoto University, Japan, 2.Clinical Genetics Unit, Kyoto University Hospital, Japan)

[P1-02-11]Chyluria in a patient with RIT1 associated Noonan syndrome

Hiroaki Murakami1,2,3, Tatsuya Sakashita2,3, Emiko Kobayashi1,2, Kunihiro Matsunami2, Kuniko Tokoro1,2, Eiji Matsukuma2, Atsushi Imamura2, Hideo Kaneko1,2,3 (1.Department of Pediatric Medical Care, Gifu Prefectural General Medical Center, Gifu, Japan, 2.Department of Pediatrics, Gifu Prefectural General Medical Center, Gifu, Japan, 3.Department of Medical Genetics, Gifu Prefectural General Medical Center, Gifu, Japan)

[P1-02-12]Congenital protein S deficiency families with the proband diagnosis leading to appropriate prevention in blood relatives

Kozue Takano1,2, Reiko Arakawa1,2, Akiko Takeshige3, Takeshi Inagaki3, Norihiro Kato1,2 (1.Department of Genomic Medicine, Center Hospital, National Center for Global Health and Medicine, 2.Medical Genomics Center, Research Institute, National Center for Global Health and Medicine, 3.Department of General Internal Medicine, Center Hospital, National Center for Global Health and Medicine)

[P1-02-13]Deep venous thrombosis during pregnancy associated with hereditary antithrombin deficiency: A case report

Iiji Koh1, Kaoru Kawasaki1, Kaori Moriuchi1, Itsuki Oda2, Atsuko Ikegawa2, Yoshie Yo1, Kazumasa Saigoh2, Noriomi Matsumura1,2 (1.Department of Obstetrics and Gynecology, KINDAI University, Osaka, Japan, 2.Department of Human Genetics, Kindai University, Osaka, Japan)

[P1-02-14]Digital clubbing without hypoxia for lysinuric protein intolerance

Daisuke Watanabe1, Daisuke Nakato1, Mamiko Yamada1, Takuma Ohnishi2, Naotaka Tamai2, Toshihide Kijima2, Fuyuki Miya1, Kenjiro Kosaki1 (1.Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan, 2.Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan)

[P1-02-15]Accessory nerve impairment is a characteristic phenotype of CHARGE syndrome

Tomoko Uehara1, Natsuki Nakamura1, Shiomi Otsuji1, Seiji Mizuno1, Shin Hayashi2, Mie Inaba1 (1.Department of Pediatric Internal Medicine and Clinical genetics, Aichi Developmental Disability Center Central Hospital, Aichi, Japan, 2.Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Aichi, Japan)

[P1-02-16]Three cases of Birt-Hogg-Dubé syndrome

Shinsuke Ninomiya1, Takahiro Hayashi1,2, Yohei Kosugi1,2, Rie Kawakita1,2 (1.Department of Clinical Genetics, Kurashiki Central Hospital, 2.Department of Pediatrics, Kurashiki Central Hospital)

[P1-02-17]Two cases with hereditary hemorrhagic telangiectasia with ACVRL1 mutation

Mayumi Komine1, Yoshiko Yanagisawa2, Naomi Nakano1, Fuminori Yamamoto1,3, Tohru Matsuura4, Mamitaro Ohtsuki1 (1.Department of Dermatology, Jichi Medical University, Tochigi, Japan, 2.Department of Oncology, Jichi Medical University, 3.Department of Dermatology, The University of Tokyo, 4.Department of Neurology, Jichi Medical University)