Art

J-GLOBAL ID：201902252986575410   Reference number：19A0724018

A case report of reversible generalized seizures in a patient with Waardenburg syndrome associated with a novel nonsense mutation in the penultimate exon of SOX10

SOX10の末端エキソンにおける新規ナンセンス変異に関連したWaardenburg症候群患者における可逆的全身発作の症例報告【JST・京大機械翻訳】

Author (10)： Suzuki Noriomi (Department of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan) ,  Mutai Hideki (Division of Hearing and Balance Research, National Institute of Sensory Organs/ Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan) ,  Miya Fuyuki (Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan) ,  Miya Fuyuki (Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan) ,  Tsunoda Tatsuhiko (Department of Medical Science Mathematics, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan) ,  Tsunoda Tatsuhiko (Laboratory for Medical Science Mathematics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan) ,  Terashima Hiroshi (Devision of Neurology, National Center for Child Health and Development, Tokyo, Japan) ,  Morimoto Noriko (Department of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan) ,  Matsunaga Tatsuo (Department of Otolaryngology, National Center for Child Health and Development, Tokyo, Japan) ,  Matsunaga Tatsuo (Division of Hearing and Balance Research, National Institute of Sensory Organs/ Medical Genetics Center, National Hospital Organization Tokyo Medical Center, Tokyo, Japan)
Material： BMC Pediatrics (Web)
Volume： 18  Issue： 1  Page： 171  Publication year： 2018 
JST Material Number： U7444A  ISSN： 1471-2431  Document type： Article
Article type： 原著論文  Country of issue： United Kingdom (GBR)  Language： ENGLISH (EN)

Abstract/Point： Waardenburg syndrome type 1 (W...

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Thesaurus term： myelin ,  irreversibility ,  *case report ,  *seizure (disease) ,  *nonsense mutation ,  Phenotype ,  Mutation ,  neurologic manifestation ,  myelin formation ,  Nerve ,  immature ,  *Genetic Variation
Semi thesaurus term： *variation(biology) ,  臨床医 ,  *Waardenburg症候群 , 【Automatic Indexing@JST】

Author keywords (5)： SOX10 ,  Waardenburg syndrome ,  Nonsense mutation ,  Delayed myelination ,  Seizure attack

JST classification (2)： Metabolic diseases,nutritional diseases in general.  (GD05010J) ,  Infectious diseases,parasitics diseases in general.  (GD01010H)

Reference (13)：

• J Med Genet; Waardenburg syndrome; AP Read, VE Newton; 34; 1997; 656-665; 10.1136/jmg.34.8.656; citation_id=CR1
• Nat Genet; Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations; K Inoue, M Khajavi, T Ohyama, S Hirabayashi, J Wilson, JD Reggin; 36; 2004; 361-369; 10.1038/ng1322; citation_id=CR2
• Am J Hum Genet; Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4; N Bondurand, F Dastot-Le, L Stanchina, N Collot, V Baral, S Marlin; 81; 2007; 1169-1185; 10.1086/522090; citation_id=CR3
• Hum Mutat; Identification and functional analysis of SOX10 missense mutation in different subtypes of Waardenburg syndrome; A Chaoui, Y Watanabe, R Touraine, V Baral, M Goossens, V Pingault; 32; 2011; 1436-1449; 10.1002/humu.21583; citation_id=CR4
• Am J Med Genet A; A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease; Y Sznajer, C Coldéa, F Meire, I Delpierre, T Sekhara, RL Touraine; 146; 2008; 1038-1041; 10.1002/ajmg.a.32247; citation_id=CR5

Terms in the title (7)： Sox10 ,  エキソン ,  ナンセンス変異 ,  Waardenburg症候群 ,  患者 ,  全身発作 ,  症例報告