Analysis Of Common Deafness Genes In Patients With Non-syndromic Hearing Impairment In Shanghai

Objective To investigate mutation characteristics of common deafness genes in 216 patients with non-syndromic hearing impairment(NSHI)in Shanghai at the molecular genetics level to provide a reference for prevention and treatment of deafness.Methods Thirteen mutation sites in four deafness-associated genes(GJB2,SLC26A4,mitochondrial DNA 12 SrRNA and GJB3)were tested using a flow-through hybridization and gene chip in 216 NSHI patients and 41 normal hearing people in Shanghai.The mutation rates of deafness patients and normal hearing people were analyzed,and analysis of CT features of the temporal bone in deafness patients.Results Among the 216 NSHI patients,the total mutation detection rate was 16.20%(35/216).GJB2 mutation detection rate was 7.87%(17/216),including c.235 delC homozygous mutation in 5 cases,c.235 delC single homozygous mutation in 5 cases,c.299 delAT homozygous mutation in 1 case,c.299 delAT single homozygous mutation in 1case,c.235 delC and 299 delAT mutation in 5 cases.SLC26A4 mutation detection rate was5.56%(12/216),including c.IVS7-2A>G homozygous mutation in 2 cases,c.IVS7-2A>G single homozygous mutation in 9 cases,c.2168A>G single homozygous mutation in 1 case.mitochondrial DNA 12 SrRNA m.1555A>G homogeneous mutation detection rate was 2.78%(6/216).In normal hearing people,the mutation detection rate was 0%(0/41).For 2 cases of the patiens with SLC26A4 gene mutation,the CT results of the temporal bone were associated with the vestibular aqueduct expansion.Conclusion The results indicate that GJB2,and SLC26A4 were the main mutationgenes in 216 cases non-syndromic hearing impairment patients in Shanghai.Differences in the rate of deafness gene mutation between non-syndromic hearing impairment patients and normal hearing people.SLC26A4 gene mutation closely related to vestibular aqueduct expansion and inner ear malformations.