Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.

ABSTRACT:

Background

Digenic inheritance is the simplest model of oligenic disease. It can be observed when there is a strong epistatic interaction between two loci. For both syndromic and non-syndromic hearing impairment, several forms of digenic inheritance have been reported.

Methods

We performed exome sequencing in a Pakistani family with profound non-syndromic hereditary hearing impairment to identify the genetic cause of disease.

Results

We found that this family displays digenic inheritance for two trans heterozygous missense mutations, one in PCDH15 [p.(Arg1034His)] and another in USH1G [p.(Asp365Asn)]. Both of these genes are known to cause autosomal recessive non-syndromic hearing impairment and Usher syndrome. The protein products of PCDH15 and USH1G function togethe

SUBMITTER: Schrauwen I 

PROVIDER: S-EPMC6053831 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature