title: Autosomal dominant inherited hearing impairment caused by a missense mutation in COL11A2 (DFNA13).
abstract: OBJECTIVE
  To analyze the phenotype in a 5-generation DFNA13 family with a missense mutation in the COL11A2 gene that causes autosomal dominant, presumably prelingual, nonsyndromic sensorineural hearing impairment.
  
  
  METHODS
  Family study.
  
  
  METHODS
  University hospital department.
  
  
  METHODS
  Twenty mutation carriers from a large American kindred.
  
  
  METHODS
  Cross-sectional analysis using pure-tone threshold measurements at 0.25, 0.5, 1, 2, 4, and 8 kHz. The audiometric configuration was evaluated according to an existing consensus protocol. The significance of features relating to audiometric configuration was tested using 1-way analysis of variance. Progression was evaluated with linear regression analyses of threshold-on-age.
  
  
  RESULTS
  Most individuals showed midfrequency (U-shaped) characteristics. The mean threshold in generations IV and V was 44 dB at 1, 2, and 4 kHz (midfrequencies); it was 29 dB at the other frequencies (0.25, 0.5, and 8 kHz). There was no significant progression beyond presbyacusis.
  
  
  CONCLUSIONS
  The trait in this family can be characterized as autosomal dominant, nonprogressive, presumably prelingual, midfrequency sensorineural hearing impairment.
authors.affiliation: Department of Otorhinolaryngology, University Medical Centre St Radboud, PO Box 9101, 6500 HB, Nijmegen, The Netherlands.
authors.forename: E M
authors.initials: EM
authors.lastname: De Leenheer
authors.forename: H H
authors.initials: HH
authors.lastname: Kunst
authors.forename: W T
authors.initials: WT
authors.lastname: McGuirt
authors.forename: S D
authors.initials: SD
authors.lastname: Prasad
authors.forename: M R
authors.initials: MR
authors.lastname: Brown
authors.forename: P L
authors.initials: PL
authors.lastname: Huygen
authors.forename: R J
authors.initials: RJ
authors.lastname: Smith
authors.forename: C W
authors.initials: CW
authors.lastname: Cremers
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000704:Analysis of Variance; D001301:Audiometry, Pure-Tone; D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003430:Cross-Sectional Studies; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D016014:Linear Models; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D014481:United States