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

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.

• Authors: 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
• Journal: American journal of human genetics (Am J Hum Genet) Vol. 86 Issue 3 Pg. 485-9 (Mar 12 2010) ISSN: 1537-6605 [Electronic] United States
• PMID: 20206331 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

Chemical References

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

Topics

• 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