Genetic Hearing Loss: A Comprehensive Review

Hearing loss can be attributed to a variety of inherited and environmental noises (medications, infections, etc.). In recent decades, our improved understanding of genetics, molecular biology, and audiologic pathways has led to the discovery of a variety of Hereditary Hearing Impairments (HHI). HHI can be categorized as syndromic HL and non-syndromic HL, in which HL is associated with other pathophysiological manifestations. Currently, greater than 300 syndromic HLs are recognized, while more than 100 chromosomal loci and 40 genes are attributed for non-syndromic HLs. Improved understanding of the genes impaired in HL, including their structure and function, will soon lead to improvements in screening and possibly treatments. The following is a review of genetic HL where we discuss the definition, classifications, etiology, epidemiology, recognized syndromes, genetics, diagnostics, and screening methods of HL.

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