Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.

ABSTRACT:

Background

Countries with culturally accepted consanguinity provide a unique resource for the study of rare recessively inherited genetic diseases. Although hereditary hearing loss (HHL) is not uncommon, it is genetically heterogeneous, with over 85 genes causally implicated in non-syndromic hearing loss (NSHL). This heterogeneity makes many gene-specific types of NSHL exceedingly rare. We sought to define the spectrum of autosomal recessive HHL in Iran by investigating both common and rarely diagnosed deafness-causing genes.

Design

Using a custom targeted genomic enrichment (TGE) panel, we simultaneously interrogated all known genetic causes of NSHL in a cohort of 302 GJB2-negative Iranian families.

Results

We established a genetic diagnosis for 67% of probands and t

SUBMITTER: Sloan-Heggen CM 

PROVIDER: S-EPMC4733363 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature