Screening Of Hot-spot Deafness Gene Mutations Among Adolescents With Hearing Loss In Yong Chuan

Objective: To investigate the spectrum and incidence of the hot-spotdeafness gene mutations in non-syndromic hearing loss adolescents inYong Chuan, Chong Qing.Method: Peripheral blood samples were obtained from60adolescents with severe to profound non-syndromic deafness at YongChuan Special Educational School. The hot-spot deafness gene mutations,including GJB2, GJB3, SLC26A4, mitochondrial DNA12S rRNA genes,were detected using a nine deafness gene mutations detection kit(Microarray). Results from59adolescents were analyzed as2of thesubjects were siblings (brother and sister).Results: Among the59analyzed adolescents,22demonstrateddeafness genes. GJB2mutations were seen in14subjects, including235 del C homozygosis (n=2) and heterozygosis mutations (n=8); GJB2235delC/176del16compound mutation (n=1); GJB2235del C/299del ATcompound mutation (n=1); GJB2299del AT homozygosis mutation (n=1)and GJB235del G/SLC26A4IVS7-2A>G compound mutation (n=1).Other mutations included SLC26A4IVS7-2A>G heterozygosis mutations(n=2) and mitochondrial DNA12SrRNA1555A>G heterozygosismutations (n=6). No GJB3gene mutation was found. The deafness genemutation rate in this group of deaf adolescents in Yong Chuan was37.29%(22/59), with the GJB2mutations being the most common (23.73%,14/59)followed by the mitochondrial12SrRNA mutations (10.17%,6/59).Conclusion: Molecular genetic screening for these hot-spotmutations is the pivotal step for the prevention and control of hereditarydeafness in Yong Chuan.