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UnknownDe novo variants are a common cause of genetic hearing loss.

Purpose

De novo variants (DNVs) are a well-recognized cause of genetic disorders. The contribution of DNVs to hearing loss (HL) is poorly characterized. We aimed to evaluate the rate of DNVs in HL-associated genes and assess their contribution to HL.

Methods

Targeted genomic enrichmen...
S-EPMC9729384 | biostudies-literature
UnknownNovel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss.
COCH is the most abundantly expressed gene in the cochlea. Unsurprisingly, mutations in COCH underly hearing loss in mice and humans. Two forms of hearing loss are linked to mutations in COCH, the well-established autosomal dominant nonsyndromic hearing loss, with or without vestibular dysfunction (...
S-EPMC7572817 | biostudies-literature
UnknownSplice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.

Purpose

The aim of this study was to determine the genetic cause of autosomal dominant nonsyndromic hearing loss segregating in a multigenerational family.

Methods

Clinical examination, genome-wide linkage analysis, and exome sequencing were carried out on the family.

Results

A...
S-EPMC6431578 | biostudies-literature
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