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Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54. 2010
Peter Green, and
Matthew Wiseman, and
Yanick J Crow, and
Henry Houlden, and
Shelley Riphagen, and
Jean-Pierre Lin, and
F Lucy Raymond, and
Anne-Marie Childs, and
Eamonn Sheridan, and
Sian Edwards, and
Dragana J Josifova
Department of Medical and Molecular Genetics, Kings College, London, SE1 9RT, UK.
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.
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