Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

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• 作者：Peter Green ; Matthew Wiseman ; Yanick J. Crow ; Henry Houlden ; Shelley Riphagen ; Jean-Pierre Lin ; F. Lucy Raymond ; Anne-Marie Childs ; Eamonn Sheridan ; Sian Edwards ; Dragana J. Josifova
• 刊名：The American Journal of Human Genetics
• 出版年：2010
• 出版时间：12 March 2010
• 年：2010
• 卷：86
• 期：3
• 页码：485-489
• 全文大小：693 K

文摘

Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at onset and clinical course. The key features are progressive ponto-bulbar palsy and bilateral sensorineural deafness. A complex neurological phenotype with a mixed picture of upper and lower motor neuron involvement reminiscent of amyotrophic lateral sclerosis evolves with disease progression. We identified a candidate gene, C20orf54, by studying a consanguineous family with multiple affected individuals and subsequently demonstrated that mutations in this gene were the cause of disease in other, unrelated families.