A Dutch family with progressive autosomal dominant non-syndromic sensorineural hearing impairment linked to DFNA13

Clin Otolaryngol Allied Sci. 2001 Aug;26(4):310-6. doi: 10.1046/j.1365-2273.2001.00477.x.

Abstract

We present a Dutch family with autosomal dominantly inherited mid-frequency and high-frequency sensorineural hearing impairment. Genetic linkage analysis in this family indicated linkage to DFNA13 with logarithm of the odds ratio (LOD) scores > +4. The majority of the affected persons presented with hearing impairment from the age of 30 years onwards, although hearing impairment was noted at about 10 years of age in two affected persons. Three individuals represent phenocopies. After correction for presbyacusis, hearing impairment was most marked at 1-2 kHz and showed an annual progression of 0.8 dB per year. By the age of 60 years, the configuration of the audiogram was flat, reflecting the combined effects of the inherited progressive hearing loss and presbyacusis. Vestibular function was intact. Recently, mutations in the COL11A2 gene were found in two other families with non-syndromic hearing impairment linked to DFNA13. Further mutation analysis of the COL11A2 gene will show whether this family also contains a COL11A2 mutation.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Audiometry, Pure-Tone
  • Cross-Sectional Studies
  • Disease Progression
  • Family
  • Female
  • Genes, Dominant
  • Genetic Linkage*
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics*
  • Humans
  • Male
  • Mutation
  • Netherlands
  • Pedigree