Deafness Gene Chip Testing Results in 86 Cases of Non-Syndromic Deafness

SUN Jie; WEI Gui-lin; CEHN Yu; ZHANG Hua

doi:10.3969/j.issn.1672-2922.2013.02.011

Abstract： Objective To investigate the value of deafness gene chip testing in patients with non-syndromic deafness. Methods Using a deafness gene chip kit capable of detecting 9 mutation sites in four deafness-associated genes (SLC26A4, GJB3, GJB2 and mtDNA12s rRNA), 86 patients with non-syndromic deafness were tested. All patients received imaging studies of the temporal bone, brain and internal auditory canal as well as cochlear fluid imaging. Results Among these 86 pa-tients with non-syndromic deafness, 51.16% were found to carry hotspot mutations of deafness associated genes, involving the GJB2 gene (n=24, 27.91%), the GJB3 gene (n=2) and the SLC26A4 gene (n=19) with enlarged vestibular aqueducts on temporal bone CT and cochlear malformations (apical turn hypoplasia). There was no mtDNA12s rRNA gene mutation, possi-bly related to the small sample size. Conclusion Deafness gene chip kit can be used for screening of hotspot mutations in the multi-ethnic region of Xinjiang, although gene sequencing should be a necessary complement. SLC26A4 gene test results in patients with large vestibular aqueduct syndrome are consistent with their temporal bone imaging findings.