Brown-Vialetto-Van Laere syndrome, a ponto-bulbar palsy with deafness, is caused by mutations in c20orf54.
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.
Green
Peter
P
Department of Medical and Molecular Genetics, Kings College, London, SE1 9RT, UK.
Wiseman
Matthew
M
Crow
Yanick J
YJ
Houlden
Henry
H
Riphagen
Shelley
S
Lin
Jean-Pierre
JP
Raymond
F Lucy
FL
Childs
Anne-Marie
AM
Sheridan
Eamonn
E
Edwards
Sian
S
Josifova
Dragana J
DJ
D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D010244:Bulbar Palsy, Progressive / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D026901:Membrane Transport Proteins; D008969:Molecular Sequence Data; D016472:Motor Neuron Disease / Q000235:genetics; D020125:Mutation, Missense; D016366:Open Reading Frames; D010641:Phenotype; D017386:Sequence Homology, Amino Acid; D013577:Syndrome
D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C548553:SLC52A3 protein, human