Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.

ABSTRACT:

Objectives/hypothesis

To characterize the severity and natural history of hearing loss, and the prevalence of having a cochlear implant in a maturing cohort of individuals with enlarged vestibular aqueduct (EVA) and zero or one mutant allele of SLC26A4.

Study design

Prospective cohort study of subjects ascertained between 1998 and 2015 at the National Institutes of Health Clinical Center.

Methods

Study subjects were 127 individuals (median age, 8 years; range, 0-59 years) with EVA in at least one ear.

Results

Ears with EVA and zero or one mutant allele of SLC26A4 had mean 0.5/1/2/4-kHz pure-tone averages of 62.6 and 52.9 dB HL, respectively, in contrast to EVA ears with two mutant alleles of SLC26A4 (88.1 dB HL; P < .01). This association was independent of age

SUBMITTER: Rose J 

PROVIDER: S-EPMC6224160 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature