Clinical and genetic heterogeneity in X-linked deafness

Br J Audiol. 1992 Apr;26(2):109-14. doi: 10.3109/03005369209077878.


The use of molecular techniques in respect of the rare X-linked non-syndromic form of genetic deafness demonstrates that this is a genetically heterogeneous disorder, with evidence for at least two separate gene loci on the X chromosome. Audiological heterogeneity in this condition is emphasized by the observation of both mixed deafness and sensorineural deafness in pedigrees showing evidence for linkage to Xq13-q21. The importance and shortcomings of the audiogram in assessing females who are known gene carriers is discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Audiometry, Pure-Tone
  • Child
  • Chromosome Aberrations / etiology
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Deafness / etiology
  • Deafness / genetics*
  • Family
  • Female
  • Genetic Linkage
  • Hearing Loss, Sensorineural / genetics
  • Humans
  • Male
  • Middle Aged
  • Molecular Probe Techniques
  • Pedigree
  • Sex Factors
  • X Chromosome