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Laryngoscope. 2010 Feb;120(2):384-9. doi: 10.1002/lary.20722.

SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.

Author information

1
Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland, USA.

Abstract

OBJECTIVES/HYPOTHESIS:

Identify correlations among SLC26A4 genotype, cochlear structural anomalies, and hearing loss associated with enlargement of the vestibular aqueduct (EVA).

STUDY DESIGN:

Prospective cohort survey, National Institutes of Health, Clinical Center, a federal biomedical research facility.

METHODS:

Eighty-three individuals, 11 months to 59 years of age, with EVA in at least one ear were studied. Correlations among pure-tone hearing thresholds, number of mutant SLC26A4 alleles, and the presence of cochlear anomalies detected by computed tomography or magnetic resonance imaging were examined.

RESULTS:

Linear mixed-effects model indicated significantly poorer hearing in ears with EVA in individuals with two mutant alleles of SLC26A4 than in those with EVA and a single mutant allele (P = .012) or no mutant alleles (P = .007) in this gene. There was no detectable relationship between degree of hearing loss and the presence of structural cochlear anomalies.

CONCLUSIONS:

The number of mutant alleles of SLC26A4, but not the presence of cochlear anomalies, has a significant association with severity of hearing loss in ears with EVA. This information will be useful for prognostic counseling of patients and families with EVA.

PMID:
19998422
PMCID:
PMC2811762
DOI:
10.1002/lary.20722
[Indexed for MEDLINE]
Free PMC Article

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