SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct
Year: 2009
Type: article
Study design: Observational Study
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.
Source: The Laryngoscope
DOI: 10.1002/lary.20722
Institutions: National Institutes of Health, National Institute on Deafness and Other Communication Disorders, University of Maryland, College Park, National Human Genome Research Institute, University of Virginia, University of Maryland, Baltimore, Georgetown University Medical Center, Johns Hopkins University, Johns Hopkins Medicine, National Institutes of Health Clinical Center
Language: English
Subfield: Sensory Systems
Field: Neuroscience
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2014074515