Mitochondrial hearing impairment. Background, genetic predisposition and possibilities for diagnosis

HNO
K RiemannS Kupka

Abstract

Hearing impairment (HI) is one of the most common neurosensory disorders, with sensorineural hereditary HI being the most common form. Mitochondrial maternally inherited HI appears to be increasing in frequency. The incidence of mitochondrial defects causing HI is estimated to be between 6 and 33% of all hearing deficiencies, with an even higher percentage for some syndromic cases. This review summarises the syndromic and non-syndromic characteristics of sensorineural HI based on mutations in mitochondrially encoded genes, the relationship to aminoglycoside-induced HI and related diagnostic tools.

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