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

ABSTRACT:

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 enrichment and massively parallel sequencing were used for molecular testing of all exons and flanking intronic sequences of known HL-associated genes, with no exclusions on the basis of type of HL or clinical features. Segregation analysis was performed, and previous reports of DNVs in PubMed and ClinVar were reviewed to characterize the rate, distribution, and spectrum of DNVs in HL.

Results

DNVs were detected in 10% (24/238) of trios for whom segregation analysis was performed. Overall, DNVs we

SUBMITTER: Klimara MJ 

PROVIDER: S-EPMC9729384 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature