Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.

ABSTRACT:

Aim

To investigate the causative genetic mutations in 12 Pakistani families with nonsyndromic or syndromic hearing loss.

Methods

Mutations in the most common causative gene for hearing loss, GJB2, were evaluated by Sanger sequencing. Targeted next-generation sequencing or whole-exome sequencing was used to analyze the genomic DNA samples from 11 probands with hearing loss. Sanger sequencing was performed to verify all identified variants.

Results

We found pathogenic, or likely to be pathogenic, mutations in all 12 families, including six known mutations in GJB2, SLC26A4, LHFPL5, and USH2A and eight novel mutations in ESPN, MYO7A, LRTOMT, PCDH15, USH2A, or EPS8L2. Notably, four compound heterozygous mutations in the MYO7A and USH2A genes were detected in two consanguin

SUBMITTER: Wang R 

PROVIDER: S-EPMC5444417 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature