Sequencing of 100 common variation sites of 18 deafness susceptibility genes among 16 182 individuals from Dongguan / 中华医学遗传学杂志

ABSTRACT

OBJECTIVE@#To determine the type and carrier rate of deafness-related variants in Dongguan, China.@*METHODS@#A total of 16 182 subjects were screened. Heel blood samples were collected from newborns, while peripheral venous blood samples were collected from the remainders. For each individual, 100 variations of 18 deafness susceptibility genes were detected.@*RESULTS@#In total 1631 deafness-related variants (including 5 homozygous mutations) were detected, which gave a detection rate of 10.08%. The detection rate of SLC26A4 gene variants was the highest (845 cases, 5.22%), which was followed by GJB2 (673 cases, 4.16%), GJB3 (100 cases, 0.62%), TMC1 (12 cases, 0.07%), and MYO15A (1 case, 0.01%). The detection rate for GJB2 c.235delC variant was the highest (524 cases, 3.24%), which was followed by SLC26A4 IVS7-2A>G variant (270 cases, 1.67%). Thirty three individuals (0.20%) carried two variants at the same time, 7 of them (0.04%) carried compound heterozygous variants of the same gene.@*CONCLUSION@#To expand the range of screening can help with determination of the carrier status and provision of early intervention and genetic counseling for the examinees.