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

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 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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Substitution
  • Bulbar Palsy, Progressive / genetics*
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 20 / genetics*
  • Deafness / genetics*
  • Female
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Infant
  • Male
  • Membrane Proteins / genetics*
  • Membrane Transport Proteins
  • Molecular Sequence Data
  • Motor Neuron Disease / genetics
  • Mutation, Missense*
  • Open Reading Frames
  • Phenotype
  • Sequence Homology, Amino Acid
  • Syndrome


  • Membrane Proteins
  • Membrane Transport Proteins
  • SLC52A3 protein, human