ArticleThe Laryngoscope2017
Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4.
Article in The Laryngoscope, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 37 citations in OpenAlex.
- Assessing the Functional Significance of Novel and Rare Variants of theInternational journal of molecular sciences · 2025Article
- Reevaluation of Enlarged Vestibular Aqueduct.JAMA otolaryngology-- head & neck surgery · 2025Article
- Genetic variants and audiometric patterns in nonsyndromic enlarged vestibular aqueduct Chinese children with complete hearing loss.European journal of pediatrics · 2025Article
- The Audiological Profile and Rehabilitation of Patients with Incomplete Partition Type II and Large Vestibular Aqueducts.The journal of international advanced otology · 2024Article
- [Analysis of 59 cases of large vestibular aqueduct syndromeLin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023Article
- Single-cell RNA-sequencing of stria vascularis cells in the adult Slc26a4BMC medical genomics · 2023Article
- Cochlear Implantation: The Volumetric Measurement of Vestibular Aqueduct and Gusher Prediction.Journal of personalized medicine · 2023Article
- Article
- Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.Human genetics · 2022Review
- Compendium of causative genes and their encoded proteins for common monogenic disorders.Protein science : a publication of the Protein Society · 2022Article
- Genetics of Inner Ear Malformations: A Review.Audiology research · 2021Review
- Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review.Audiology research · 2021Review
- Enlarged vestibular aqueduct and Mondini Malformation: audiological, clinical, radiologic and genetic features.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2021Article
- SLC26A4-linked CEVA haplotype correlates with phenotype in patients with enlargement of the vestibular aqueduct.BMC medical genetics · 2019Article
- Functional Testing of SLC26A4 Variants-Clinical and Molecular Analysis of a Cohort with Enlarged Vestibular Aqueduct from Austria.International journal of molecular sciences · 2018Article
- A commonJournal of medical genetics · 2017Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
Abstract
objectives/hypothesisTo 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
designProspective cohort study of subjects ascertained between 1998 and 2015 at the National Institutes of Health Clinical Center.
methodsStudy subjects were 127 individuals (median age, 8 years; range, 0-59 years) with EVA in at least one ear.
resultsEars 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).
conclusionsEars 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.
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