Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4

Jane Rose, Julie A. Muskett, Kelly A. King, Christopher K. Zalewski, Parna Chattaraj, John A. Butman, Margaret A. Kenna, Wade W. Chien, Carmen C. Brewer, Andrew J. Griffith

Research output: Contribution to journalArticlepeer-review

Abstract

Objectives/Hypothesis: To characterize the severity and natural history of hearing loss, and the prevalence of having a cochlear implant in a maturing cohort of individuals with enlarged vestibular aqueduct (EVA) and zero or one mutant allele of SLC26A4. Study Design: Prospective cohort study of subjects ascertained between 1998 and 2015 at the National Institutes of Health Clinical Center. Methods: Study subjects were 127 individuals (median age, 8 years; range, 0–59 years) with EVA in at least one ear. Results: Ears with EVA and zero or one mutant allele of SLC26A4 had mean 0.5/1/2/4-kHz pure-tone averages of 62.6 and 52.9 dB HL, respectively, in contrast to EVA ears with two mutant alleles of SLC26A4 (88.1 dB HL; P <.01). This association was independent of age, sex, or side of EVA (P <.001). Natural history of hearing loss was not associated with number of mutant alleles (P =.94). The prevalence of having a cochlear implant was nine (12%) of 76, two (13%) of 15, and 12 (38%) of 32 subjects with zero, one, and two mutant alleles, respectively (P =.00833). This association was not independent (P =.534) but reflected underlying correlations with age at time of first audiogram (P =.003) or severity of hearing loss (P =.000). Conclusions: Ears with EVA and zero or one mutant allele of SLC26A4 have less severe hearing loss, no difference in prevalence of fluctuation, and a lower prevalence of cochlear implantation in comparison to ears with two mutant alleles of SLC26A4. Level of Evidence: NA Laryngoscope, 127:E238–E243, 2017.

Original languageEnglish (US)
Pages (from-to)E238-E243
JournalLaryngoscope
Volume127
Issue number7
DOIs
StatePublished - Jul 2017
Externally publishedYes

Keywords

  • Cochlear implant
  • Pendred syndrome
  • SLC26A4
  • congenital anomalies
  • fluctuation
  • hearing loss
  • natural history
  • non-syndromic
  • otology
  • pediatric otology
  • progression

ASJC Scopus subject areas

  • Otorhinolaryngology

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