Art

J-GLOBAL ID：201702222357276102   Reference number：17A0915504

Japanese WDR45 de novo mutation diagnosed by exome analysis: A case report

エキソーム解析で診断される日本人WDR45のde novo突然変異:症例報告

Author (12)： Endo Hironobu (Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan) ,  Uenaka Takeshi (Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan) ,  Satake Wataru (Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan) ,  Suzuki Yutaka (Department of Computational Biology and Medical Sciences, Laboratory of Systems Genomics, Graduate School of Frontier Sciences, The University of Tokyo, Kashiwa, Chiba, Japan) ,  Tachibana Hisatsugu (Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan) ,  Chihara Norio (Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan) ,  Ueda Takehiro (Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan) ,  Sekiguchi Kenji (Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan) ,  Mariko Taniguchi-Ikeda (Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan) ,  Kowa Hisatomo (Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan) ,  Kanda Fumio (Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan) ,  Toda Tatsushi (Division of Neurology, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan)
Material： Neurology and Clinical Neuroscience (Web)
Volume： 5  Issue： 4  Page： 131-133  Publication year： 2017 
JST Material Number： U0954A  ISSN： 2049-4173  Document type： Article
Article type： 短報  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： human(primates) ,...
Semi thesaurus term： de novo mutation ,...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=17A0915504&from=J-GLOBAL&jstjournalNo=U0954A") }}

Author keywords (5)： autophagy ,  basal ganglia ,  beta-propeller protein-associated neurodegeneration ,  iron accumulation ,  parkinsonism

JST classification (1)： Clinical neurology in general  (GN01030H)

Reference (7)：

• Schneider SA. Neurodegeneration with brain iron accumulation. Curr. Neurol. Neurosci. Rep. 2016; 16: 9.
• Haack TB, Hogarth P, Kruer MC et al. Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am. J. Hum. Genet. 2012; 91: 1144-49.
• Saitsu T, Nishimura K, Muramatsu H et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat. Genet. 2013; 45: 445-9.
• Hayflick SJ, Kruer MC, Gregory A et al. β-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation. Brain 2013; 136: 1708-17.
• Nishioka K, Oyama G, Yoshino H et al. High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism. Neurobiol. Aging 2015; 36: 2004.e9-15.

Terms in the title (4)： エキソーム解析 ,  診断 ,  日本人 ,  症例報告