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. 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

Kelly A King  1 , Byung Yoon Choi, Christopher Zalewski, Anne C Madeo, Ani Manichaikul, Shannon P Pryor, Anne Ferruggiaro, David Eisenman, H Jeffrey Kim, John Niparko, James Thomsen, John A Butman, Andrew J Griffith, Carmen C Brewer
Affiliations

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

Kelly A King et al. Laryngoscope. 2010 Feb.

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.

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Figures

Figure 1
Figure 1
Mean (+/− 1SD) pure-tone air-conduction thresholds in ears with EVA grouped according to (a) number of mutant alleles of SLC26A4 and (b) presence or absence of cochlear anomalies.
Figure 1
Figure 1
Mean (+/− 1SD) pure-tone air-conduction thresholds in ears with EVA grouped according to (a) number of mutant alleles of SLC26A4 and (b) presence or absence of cochlear anomalies.
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