title: SLC26A4 genotype, but not cochlear radiologic structure, is correlated with hearing loss in ears with an enlarged vestibular aqueduct.
abstract: OBJECTIVE
  Identify correlations among SLC26A4 genotype, cochlear structural anomalies, and hearing loss associated with enlargement of the vestibular aqueduct (EVA).
  
  
  METHODS
  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.
authors.affiliation: Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland, USA.
authors.forename: Kelly A
authors.initials: KA
authors.lastname: King
authors.forename: Byung Yoon
authors.initials: BY
authors.lastname: Choi
authors.forename: Christopher
authors.initials: C
authors.lastname: Zalewski
authors.forename: Anne C
authors.initials: AC
authors.lastname: Madeo
authors.forename: Ani
authors.initials: A
authors.lastname: Manichaikul
authors.forename: Shannon P
authors.initials: SP
authors.lastname: Pryor
authors.forename: Anne
authors.initials: A
authors.lastname: Ferruggiaro
authors.forename: David
authors.initials: D
authors.lastname: Eisenman
authors.forename: H Jeffrey
authors.initials: HJ
authors.lastname: Kim
authors.forename: John
authors.initials: J
authors.lastname: Niparko
authors.forename: James
authors.initials: J
authors.lastname: Thomsen
authors.forename: John A
authors.initials: JA
authors.lastname: Butman
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Griffith
authors.forename: Carmen C
authors.initials: CC
authors.lastname: Brewer
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001301:Audiometry, Pure-Tone; D001309:Auditory Threshold; D001844:Bone Conduction; D002648:Child; D002675:Child, Preschool; D003051:Cochlea / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D005838:Genotype; D034381:Hearing Loss / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D011859:Radiography; D000076988:Sulfate Transporters; D014723:Vestibular Aqueduct / Q000002:abnormalities* / Q000000981:diagnostic imaging; D055815:Young Adult
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters