Identification of novel compound heterozygous mutations of the MYO15A gene with autosomal recessive non-syndromic hearing loss.

ABSTRACT:

Background

The most common inheritance pattern responsible for congenital deafness belongs to autosomal recessive non-syndromic hearing loss (ARNSHL) and mutations of the highly heterogeneous MYO15A locus are present in a large proportion of cases.

Methods

One Chinese family with ARNSHL was subjected to clinical evaluation and genetic analysis. We used targeted and whole exome sequencing with Sanger sequencing to identify and characterize mutations. Bioinformatics analysis was conducted to evaluate molecular functions.

Results

Three compound heterozygous MYO15A gene variants, including two novel variants, c.6804G > A (p.M2268I), and c.6188_6190delinsGTCA (p.F2063Cfs*60), responsible for deafness were identified. Pathogenicity was assessed by multiple bioinformatics an

SUBMITTER: Wang L 

PROVIDER: S-EPMC9551133 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature