title: 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.affiliation: Department of Medical and Molecular Genetics, Kings College, London, SE1 9RT, UK.
authors.forename: Peter
authors.initials: P
authors.lastname: Green
authors.forename: Matthew
authors.initials: M
authors.lastname: Wiseman
authors.forename: Yanick J
authors.initials: YJ
authors.lastname: Crow
authors.forename: Henry
authors.initials: H
authors.lastname: Houlden
authors.forename: Shelley
authors.initials: S
authors.lastname: Riphagen
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Lin
authors.forename: F Lucy
authors.initials: FL
authors.lastname: Raymond
authors.forename: Anne-Marie
authors.initials: AM
authors.lastname: Childs
authors.forename: Eamonn
authors.initials: E
authors.lastname: Sheridan
authors.forename: Sian
authors.initials: S
authors.lastname: Edwards
authors.forename: Dragana J
authors.initials: DJ
authors.lastname: Josifova
mesh_terms: 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
chemical_list: D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C548553:SLC52A3 protein, human