Epidemiological analysis of nonsyndromic hearing loss among 2,731 Uygur and Han patients in XinJiang

doi:10.3969/j.issn.1672-2922.2017.02.017

Abstract：Objective To report results of an epidemiological analysis of nonsydromic autosomal dominant hearing loss using a gene screening kit for the GJB2, SLC26A4, mitochondrial 12SrRNA and GJB3 genes. Methods In this study, we screened for GJB2, SLC26A4, mitochondrial 12SrRNA and GJB3 gene mutations in 2,731 cases of severe non-syn-dromic sensorineural deafness in Xinjiang using a gene screening kit. Results The overall detection rate of GJB2 gene mutations was 7.84% (214/2,731): 10.56% (131/1,241) among the Han patients and 5.57% (83/1,490) among the Ui-ghur patients. The rate of SLC26A4 mutations was 9.51% (118/1,241) among the Han patients and 0.94% (14/1,490) among Uygur patients, respectively. 12SrRNA gene mutations were seen in 149 cases (Han:n=120 or 9.67%;Uygur:n=29 or 1.95%). Conclusion Mutations of the GJB2, SLC26A4 and 12SrRNA genes are common causes of non-syndromichearing loss in Xinjiang. GJB2c.235delC is the mutation hot spot among both Hans and Uygurs. Other pathogenic genes may also exist in heterozygous mutation deafness patients.