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Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and future

HUMAN GENETICS (2022)

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HUMAN GENETICS

卷 141, 期 3-4, 页码 413-430

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SPRINGER

DOI: 10.1007/s00439-021-02309-9

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Genetics & Heredity

资金

National Institute of Deafness and other Communication Disorders [R01 DC01165, R01 DC003594, R01 DC016593]

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Hearing impairment is a common sensory disability with high genetic heterogeneity. Non-syndromic hearing impairment is mainly caused by autosomal recessive inheritance. Populations with high rates of consanguinity have been crucial in identifying hearing impairment-related genes.

Hearing impairment (HI) is one of the most common sensory disabilities with exceptionally high genetic heterogeneity. Of genetic HI cases, 30% are syndromic and 70% are nonsyndromic. For nonsyndromic (NS) HI, 77% of the cases are due to autosomal recessive (AR) inheritance. ARNSHI is usually congenital/prelingual, severe-to-profound, affects all frequencies and is not progressive. Thus far, 73 ARNSHI genes have been identified. Populations with high rates of consanguinity have been crucial in the identification of ARNSHI genes, and 92% (67/73) of these genes were identified in consanguineous families. Recent changes in genomic technologies and analyses have allowed a shift towards ARNSHI gene discovery in outbred populations. The latter is crucial towards understanding the genetic architecture of ARNSHI in diverse and understudied populations. We present an overview of the 73 ARNSHI genes, the methods used to identify them, including next-generation sequencing which revolutionized the field, and new technologies that show great promise in advancing ARNSHI discoveries.

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