Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variant.

ABSTRACT:

Background

The genetic architecture of hearing impairment in Finland is largely unknown. Here, we investigated two Finnish families with autosomal recessive nonsyndromic symmetrical moderate-to-severe hearing impairment.

Methods

Exome and custom capture next-generation sequencing were used to detect the underlying cause of hearing impairment.

Results

In both Finnish families, we identified a homozygous pathogenic splice site variant c.637+1G>T in CAPB2 that is known to cause autosomal recessive nonsyndromic hearing impairment. Four CABP2 variants have been reported to underlie autosomal recessive nonsyndromic hearing impairment in eight families from Iran, Turkey, Pakistan, Italy, and Denmark. Of these variants, the pathogenic splice site variant c.637+1G>T is the mos

SUBMITTER: Bharadwaj T 

PROVIDER: S-EPMC8922966 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature