title: Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.
abstract: 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.
  
  
  
  Prospective cohort study of subjects ascertained between 1998 and 2015 at the National Institutes of Health Clinical Center.
  
  
  
  Study subjects were 127 individuals (median age, 8 years; range, 0-59 years) with EVA in at least one ear.
  
  
  
  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).
  
  
  
  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.
  
  
  
  NA Laryngoscope, 127:E238-E243, 2017.
authors.affiliation: Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
authors.forename: Jane
authors.initials: J
authors.lastname: Rose
authors.affiliation: Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
authors.forename: Julie A
authors.initials: JA
authors.lastname: Muskett
authors.affiliation: Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
authors.forename: Kelly A
authors.initials: KA
authors.lastname: King
authors.affiliation: Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
authors.forename: Christopher K
authors.initials: CK
authors.lastname: Zalewski
authors.affiliation: Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
authors.forename: Parna
authors.initials: P
authors.lastname: Chattaraj
authors.affiliation: Radiology and Imaging Sciences, Clinical Center, National Institutes of Health, Bethesda, Maryland.
authors.forename: John A
authors.initials: JA
authors.lastname: Butman
authors.affiliation: Department of Otology and Laryngology, Harvard Medical School, Boston, Massachusetts.|Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts.
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Kenna
authors.affiliation: Office of the Clinical Director, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, U.S.A.
authors.forename: Wade W
authors.initials: WW
authors.lastname: Chien
authors.affiliation: Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
authors.forename: Carmen C
authors.initials: CC
authors.lastname: Brewer
authors.affiliation: Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland.
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Griffith
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D001309:Auditory Threshold; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004252:DNA Mutational Analysis; D003638:Deafness / Q000235:genetics* / Q000534:rehabilitation; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008875:Middle Aged; D011446:Prospective Studies; D000076988:Sulfate Transporters; D014723:Vestibular Aqueduct / Q000002:abnormalities*; D055815:Young Adult
chemical_list: D026901:Membrane Transport Proteins; C085609:SLC26A4 protein, human; D000076988:Sulfate Transporters
keywords: Cochlear implant; Pendred syndrome; SLC26A4; congenital anomalies; fluctuation; hearing loss; natural history; non-syndromic; otology; pediatric otology; progression