GJB3/GJB6 screening in GJB2 carriers with idiopathic hearing loss: Is it necessary?

ABSTRACT:

Background

Genetic analysis detected excessive mono-allelic recessive GJB2 mutations in individuals with idiopathic deafness; the remaining alleles in trans/cis are underdetermined. The aim of this study was to assess the contributions of variants in GJB3 or GJB6 to non-syndromic sensorineural hearing impairment (NSHI) in Chinese patients with mono-allelic GJB2 mutations.

Methods

The entire coding sequences of GJB3/GJB6, as well as deletions in GJB6, in a cohort of NSHI patients (n = 100) carrying likely pathogenic heterozygous GJB2 mutations, were tested. Targeted next generation sequencing was further performed in a multiplex family GDHY with moderate to profound NSHI.

Results

Putatively causative GJB3 variant underlied 1% (1/100) in this cohort. In family GDHY, we

SUBMITTER: Chen K 

PROVIDER: S-EPMC6817113 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature