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Background  Nonsyndromic enlargement of vestibular aqueduct (NSEVA) is an autosomal recessive hearing loss disorder that is associated with mutations in  SLC26A4 . However, not all patients with NSEVA carry biallelic mutations in  SLC26A4 . A recent study proposed that single mutations in both  SLC26A4  and  KCNJ10  lead to digenic NSEVA. We examined whether  KCNJ10  excert a role in the pathogenesis of NSEVA in Chinese patients.    Methods    SLC26A4  was sequenced in 1056 Chinese patients with NSEVA.  KCNJ10  was screened in 131 patients who lacked mutations in either one or both alleles of  SLC26A4.  Additionally,  KCNJ10  was screened in 840 controls, including 563 patients diagnosed with NSEVA who carried biallelic  SLC26A4  mutations, 48 patients with nonsyndromic hearing loss due to inner ear malformations that did not involve enlargement of the vestibular aqueduct (EVA), 96 patients with conductive hearing loss due to various causes, and 133 normal-hearing individuals with no family history of hereditary hearing loss.    Results  925 NSEVA patients were found carrying two-allele pathogenic  SLC26A4  mutations. The most frequently detected  KCNJ10  mutation was c.812G>A (p.R271H). Compared with the normal-hearing control subjects, the occurrence rate of c.812G>A in NSEVA patients with lacking mutations in one or both alleles of  SLC26A4  had no significant difference(1.53% vs. 5.30%, χ 2  = 2.798, p = 0.172), which suggested that it is probably a nonpathogenic benign variant.  KCNJ10  c.1042C>T (p.R348C), the reported EVA-related mutation, was not found in patients with NSEVA who lacked mutations in either one or both alleles of  SLC26A4.  Furthermore, the normal-hearing parents of patients with NSEVA having two  SLC26A4  mutations carried the  KCNJ10  c.1042C>T or c.812G>A mutation and a  SLC26A4  pathogenic mutation.    Conclusion    SLC26A4  is the major genetic cause in Chinese NSEVA patients, accounting for 87.59%.  KCNJ10  may not be a contributor to NSEVA in Chinese population. Other genetic or environmental factors are possibly play a role in the etiology of Chinese EVA patients with zero or monoallelic  SLC26A4  mutation.

KCNJ10 May Not Be a Contributor to Nonsyndromic Enlargement of Vestibular Aqueduct (NSEVA) in Chinese Subjects