SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct
KA King, BY Choi, C Zalewski, AC Madeo… - The …, 2010 - Wiley Online Library
KA King, BY Choi, C Zalewski, AC Madeo, A Manichaikul, SP Pryor, A Ferruggiaro…
The Laryngoscope, 2010•Wiley Online LibraryAbstract 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 …
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 …
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. Laryngoscope, 2010
Wiley Online Library