Features of autosomal recessive non-syndromic hearing impairment: a review to serve as a reference

Clin Otolaryngol. 2016 Oct;41(5):487-97. doi: 10.1111/coa.12567. Epub 2016 Feb 11.


Objective: Non-syndromic sensorineural hearing impairment is inherited in an autosomal recessive fashion in 75-85% of cases. To date, 61 genes with this type of inheritance have been identified as related to hearing impairment, and the genetic heterogeneity is accompanied by a large variety of clinical characteristics. Adequate counselling on a patient's hearing prognosis and rehabilitation is part of the diagnosis on the genetic cause of hearing impairment and, in addition, is important for the psychological well-being of the patient.

Type of review: Traditional literature review.

Data source: All articles describing clinical characteristics of the audiovestibular phenotypes of identified genes and related loci have been reviewed.

Conclusion: This review aims to serve as a summary and a reference for counselling purposes when a causative gene has been identified in a patient with a non-syndromic autosomal recessively inherited sensorineural hearing impairment.

Publication types

  • Review

MeSH terms

  • Counseling
  • Genes, Recessive*
  • Genetic Predisposition to Disease
  • Hearing Loss, Sensorineural / genetics*
  • Hearing Loss, Sensorineural / rehabilitation
  • Humans
  • Phenotype
  • Prognosis