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Publication Detail
Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Case Reports
  • Authors:
    Green P, Wiseman M, Crow YJ, Houlden H, Riphagen S, Lin J-P, Raymond FL, Childs A-M, Sheridan E, Edwards S, Josifova DJ
  • Publication date:
    12/03/2010
  • Pagination:
    485, 489
  • Journal:
    Am J Hum Genet
  • Volume:
    86
  • Issue:
    3
  • Status:
    Published
  • Country:
    United States
  • PII:
    S0002-9297(10)00088-1
  • Language:
    eng
  • Keywords:
    Amino Acid Sequence, Amino Acid Substitution, Bulbar Palsy, Progressive, Child, Child, Preschool, Chromosomes, Human, Pair 20, Deafness, Female, Hearing Loss, Sensorineural, Humans, Infant, Male, Membrane Proteins, Membrane Transport Proteins, Molecular Sequence Data, Motor Neuron Disease, Mutation, Missense, Open Reading Frames, Phenotype, Sequence Homology, Amino Acid, Syndrome
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.
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