Prevalence of SLC26A4 mutations in deafness with unilateral enlarged vestibular aqueduct syndrome
HUANG Shasha
HUANG Bangqing
DONG Min
MENG Xiaoxiao
DAI Pu
Abstract：Objective To determine the prevalence of SLC26A4 mutation in the patients with unilateral enlarged ves-tibular aqueduct syndrome, and explore the risk factors of the unilateral enlarged vestibular aqueduct syndrome. Methods All patients with hearing test and temporal bone CT scan received the genetic tests in coding region of SLC26A4, and the pa-tients were divided into two groups according to the temporal bone CT:unilateral and bilateral enlarged vestibular aqueduct. Results The positive rate of SLC26A4 in patients with unilateral enlarged vestibular aqueduct (29.41%) was significantly lower than that in patients with bilateral large vestibular aqueduct (95.97%). (P<0.01) Conclusion Unilateral EVA is not as-sociated with SLC26A4 and may have a different etiology.
Keywords：hearing lossUnilateral enlarged vestibular aqueduct syndromeSLC26A4
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 19-22 )