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  • Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.

American journal of human genetics (2010-03-09)
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
ABSTRACT

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.