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Audiologic presentation of enlargement of the vestibular aqueduct according to the SLC 26 A 4 genotypes
Author(s) -
Rah Yoon C.,
Kim Ah R.,
Koo JaWon,
Lee Jun H.,
Oh Seungha,
Choi Byung Y.
Publication year - 2015
Publication title -
the laryngoscope
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.181
H-Index - 148
eISSN - 1531-4995
pISSN - 0023-852X
DOI - 10.1002/lary.25079
Subject(s) - vestibular aqueduct , allele , medicine , hearing loss , genotype , pure tone audiometry , audiology , sanger sequencing , audiometry , absolute threshold of hearing , population , phenotype , mutant , genetics , mutation , biology , gene , environmental health
Objectives/Hypothesis To determine the distribution of the number and types of mutant alleles of SLC26A4 and their correlations with hearing phenotypes in Korean bilateral enlargement of vestibular aqueduct (EVA) patients. Study Design Prospective cohort study. Methods To determine the number and type of mutant alleles, Sanger sequencing of coding region of SLC26A4 was performed for 56 patients with bilateral EVA who were consecutively recruited. Their correlations with hearing phenotypes were analyzed based on 0.5‐, 1‐, 2‐, and 3‐kHz air conduction averages of pure‐tone audiometry. Results Most patients with bilateral EVA (83.9%) carried two mutant alleles of SLC26A4 (M2), and all others (16.1%) had only one detectable mutant allele of SLC26A4 (M1) in the Korean population. There were no cases with zero mutations. p.H723R/p.H723R was the most frequently observed mutant allelic pair (34%), followed by p.H723R/c.919‐2A>G (20%). There was no significant difference in hearing threshold, progression, or fluctuation of hearing level between the M1 and M2 groups. However, focusing on the type of mutations exclusively in the M2 group, cases with p.H723R/c.919‐2A>G were associated with more frequent progression of hearing loss during the follow‐up period. The cases with p.H723R/c.919‐2A>G tended to show slightly better hearing than p.H723R homozygotes, although the difference was not statistically significant. There appears to be a different genotype‐auditory phenotype correlation among ethnicities. Conclusions Our data suggest that the auditory phenotype of Korean bilateral EVA patients is more strongly correlated with the type rather than the number of mutations in SLC26A4 . Level of Evidence NA Laryngoscope , 125:E216–E222, 2015