Screening of mutations of common deafness-related genes in neonates in Changning District, Shanghai

ObjectiveTo determine the mutations of common deafness-related genes and explore the clinical significance of universal screening in neonates in Changning District of Shanghai.

MethodsMicroarray gene screening was used to detect the following common mutation sites, including GJB2(c.35delG, c.176 del16, c.235delC, c.299 delAT); SLC26A4(c.IVS7-2A > G, c.2168A > G, c.1174A > T, c.1226G > A, c.1229C > T, c.IVS15+5G > A, c.1975G > C, c.2027T > A); mitochondrial DNA 12S rRNA(m.1555A > G; m.1494C > T)and GJB3(c.538C > T). In addition, hearing screening was conducted.

ResultsIn a total of 2 006 neonates, 90 cases(4.49%)had the mutations, including 40(1.99%)carrying a GJB2 single heterozygous mutation, 38(1.89%)carrying a SLC26A4 single heterozygous mutation, 4(0.20%)carrying a mitochondrial 12S rRNA homogeneous mutation, and 6(0.30%)carrying a GJB3 single heterozygous mutation. There were two double heterozygous mutations. In addition, 11 cases failed in the hearing screening.

ConclusionThere are mutations of deafness-related genes in neonates in Changning District of Shanghai, in which GJB2 and SLC26A4 are common. It remains crucial to combine screening of common deafness-related genes and hearing test in neonates for improving the health quality. Moreover, it is significant in preventing and controlling the hearing disability in three levels.