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Am J Hum Genet. 2010 Mar 12;86(3):485-9. doi: 10.1016/j.ajhg.2010.02.006. Epub 2010 Mar 4.

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

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  • 1Department of Medical and Molecular Genetics, Kings College, London, SE1 9RT, UK.

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.

PMID:
20206331
PMCID:
PMC2833371
DOI:
10.1016/j.ajhg.2010.02.006
[PubMed - indexed for MEDLINE]
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