Jiang Y.,Chinese PLA General Hospital |
Jiang Y.,Fujian Medical University |
Huang S.,Chinese PLA General Hospital |
Deng T.,Beijing Capital Bio Independent Clinical Laboratory |
And 7 more authors.
In China, approximately 30,000 babies are born with hearing impairment each year. However, the molecular factors causing congenital hearing impairment in the Xiamen area of Fujian province have not been evaluated. To provide accurate genetic testing and counseling in the Xiamen area, we investigated the molecular etiology of non-syndromic deafness in a deaf population from Xiamen. Unrelated students with hearing impairment (n = 155) who attended Xiamen Special Education School in Fujian Province were recruited for this study. Three common deafness-related genes, GJB2, SLC26A4, and mtDNA12SrRNA, were analyzed using all-exon sequencing. GJB2 mutations were detected in 27.1%(42/ 155) of the entire cohort. The non-syndromic hearing loss (NSHL) hotspot mutations c.109G Source