文献

J-GLOBAL ID：201602225325695549   整理番号：16A1187142

PRPS1遺伝子の新規ミスセンス突然変異によるArts症候群 症例報告

Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report

著者 (10件)： Maruyama Koichi (Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan) ,  Ogaya Shunsuke (Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan) ,  Kurahashi Naoko (Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan) ,  Umemura Ayako (Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan) ,  Yamada Keitaro (Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan) ,  Hashiguchi Akihiro (Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan) ,  Takashima Hiroshi (Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan) ,  Torres Rosa J. (Department of Biochemistry, La Paz University Hospital, IdiPaz, Madrid, Spain) ,  Torres Rosa J. (Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Spain) ,  Aso Kosaburo (Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan)
資料名： Brain & Development  (Brain & Development)
巻： 38  号： 10  ページ： 954-958  発行年： 2016年11月 
JST資料番号： W0814A  ISSN： 0387-7604  資料種別： 逐次刊行物 (A)
記事区分： 原著論文  発行国： オランダ (NLD)  言語： 英語 (EN)

抄録/ポイント： Arts症候群を特徴づけるのは,早期に発症する低血圧,運動失...

シソーラス用語： ヒト ,...
準シソーラス用語： *Arts症候群 ,...

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著者キーワード (5件)： Hypotonia ,  Ataxia ,  Hearing impairment ,  Recurrent infection ,  X-linked

分類 (1件)： 先天性疾患・奇形一般  (GD03010V)

引用文献 (10件)：

• Arts WF, Loonen MC, Sengers RC, Slooff JL. X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course. Ann Neurol 1993;33:535-9.
• de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, et al. Arts syndrome is caused by loss-of-function mutations in PRPS1. Am J Hum Genet 2007;81:507-18.
• de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J. PRPS1 mutations: four distinct syndromes and potential treatment. Am J Hum Genet 2010;86:506-18.
• Synofzik M, Muller vom Hagen J, Haack TB, Wilhelm C, Lindig T, Beck-Wodl S, et al. X-linked Charcot-Marie-Tooth disease, arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. Orphanet J Rare Dis 2014;9:24.
• Cai F, Zhang J. Study of nerve conduction and late responses in normal Chinese infants, children, and adults. J Child Neurol 1997;12:13-8.

タイトルに関連する用語 (3件)： ミスセンス突然変異 ,  症候群 ,  症例報告