title: Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin.
abstract: OBJECTIVE
  It has been demonstrated that mutations in deafness, autosomal recessive 31 (DFNB31), the gene encoding whirlin, is responsible for nonsyndromic hearing loss (NSHL; DFNB31) and Usher syndrome type II (USH2D). We screened DFNB31 in a large cohort of patients with different clinical subtypes of Usher syndrome (USH) to determine the prevalence of DFNB31 mutations among USH patients.
  
  
  METHODS
  DFNB31 was screened in 149 USH2, 29 USH1, six atypical USH, and 11 unclassified USH patients from diverse ethnic backgrounds. Mutation detection was performed by direct sequencing of all coding exons.
  
  
  RESULTS
  We identified 38 different variants among 195 patients. Most variants were clearly polymorphic, but at least two out of the 15 nonsynonymous variants (p.R350W and p.R882S) are predicted to impair whirlin structure and function, suggesting eventual pathogenicity. No putatively pathogenic mutation was found in the second allele of patients with these mutations.
  
  
  CONCLUSIONS
  DFNB31 is not a major cause of USH.
authors.affiliation: Unidad de Genética, Hospital Universitario La Fe, Valencia, Spain.
authors.forename: Elena
authors.initials: E
authors.lastname: Aller
authors.forename: Teresa
authors.initials: T
authors.lastname: Jaijo
authors.forename: Erwin
authors.initials: E
authors.lastname: van Wijk
authors.forename: Inga
authors.initials: I
authors.lastname: Ebermann
authors.forename: Ferry
authors.initials: F
authors.lastname: Kersten
authors.forename: Gema
authors.initials: G
authors.lastname: García-García
authors.forename: Krysta
authors.initials: K
authors.lastname: Voesenek
authors.forename: María José
authors.initials: MJ
authors.lastname: Aparisi
authors.forename: Lies
authors.initials: L
authors.lastname: Hoefsloot
authors.forename: Cor
authors.initials: C
authors.lastname: Cremers
authors.forename: Manuel
authors.initials: M
authors.lastname: Díaz-Llopis
authors.forename: Ronald
authors.initials: R
authors.lastname: Pennings
authors.forename: Hanno J
authors.initials: HJ
authors.lastname: Bolz
authors.forename: Hannie
authors.initials: H
authors.lastname: Kremer
authors.forename: José M
authors.initials: JM
authors.lastname: Millán
mesh_terms: D014644:Genetic Variation; D006801:Humans; D007438:Introns / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D052245:Usher Syndromes / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C477219:WHRN protein, human