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- Title
SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.
- Authors
King, Kelly A.; Choi, Byung Yoon; Zalewski, Christopher; Madeo, Anne C.; Manichaikul, Ani; Pryor, Shannon P.; Ferruggiaro, Anne; Eisenman, David; Kim, H. Jeffrey; Niparko, John; Thomsen, James; Butman, John A.; Griffith, Andrew J.; Brewer, Carmen C.
- 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. Laryngoscope, 2010
- Subjects
GENETICS of deafness; VESTIBULAR aqueduct; COCHLEA; ALLELES; HUMAN abnormalities; PENDRED syndrome
- Publication
Laryngoscope, 2010, Vol 120, Issue 2, p384
- ISSN
0023-852X
- Publication type
Article
- DOI
10.1002/lary.20722