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Features of autosomal recessive non‐syndromic hearing impairment: a review to serve as a reference
Author(s) -
Oonk A.M.M.,
Huygen P.L.M.,
Kunst H.P.M.,
Kremer H.,
Pennings R.J.E.
Publication year - 2016
Publication title -
clinical otolaryngology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.914
H-Index - 68
eISSN - 1749-4486
pISSN - 1749-4478
DOI - 10.1111/coa.12567
Subject(s) - medicine , audiology , pediatrics
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.