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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 ,...
Semi thesaurus term： Nerve Degeneration ,...

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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