EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss.

ABSTRACT:

Background

More than 70 % of the cases of congenital deafness are of genetic origin, of which approximately 80 % are non-syndromic and show autosomal recessive transmission (DFNB forms). To date, 60 DFNB genes have been identified, most of which cause congenital, severe to profound deafness, whereas a few cause delayed progressive deafness in childhood. We report the study of two Algerian siblings born to consanguineous parents, and affected by progressive hearing loss.

Method

After exclusion of GJB2 (the gene most frequently involved in non-syndromic deafness in Mediterranean countries), we performed whole-exome sequencing in one sibling.

Results

A frame-shift variant (c.1014delC; p.Ser339Alafs*15) was identified in EPS8L2, encoding Epidermal growth factor receptor P

SUBMITTER: Dahmani M 

PROVIDER: S-EPMC4539681 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature