The SLC26A4 c.706C>G (p.Leu236Val) Variant is a Frequent Cause of Hearing Impairment in Filipino Cochlear Implantees.

ABSTRACT:

Hypothesis

Variants in SLC26A4 are an important cause of congenital hearing impairment in the Philippines.

Background

Cochlear implantation is a standard rehabilitation option for congenital hearing impairment worldwide, but places a huge cost burden in lower-income countries. The study of risk factors such as genetic variants that may help determine genetic etiology of hearing loss and also predict cochlear implant outcomes is therefore beneficial.

Methods

DNA samples from 29 GJB2-negative Filipino cochlear implantees were Sanger-sequenced for the coding exons of SLC26A4. Exome sequencing was performed to confirm results.

Results

Four cochlear implantees with bilaterally enlarged vestibular aqueducts (EVA) were homozygous for the pathogenic SLC26A4 c.706C>G (p

SUBMITTER: Chiong CM 

PROVIDER: S-EPMC6097524 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature