Abstract: Objective: To investigate the mutative rate of common hereditary deafness genes in children conceived through assisted reproductive technology (ART offspring). Methods：A total of 129 cases of ART offspring in our center from January 2010 to December 2014 were included, and the average age of the subjects was (4.37±0.92) years old. Blood samples of 161 offspring conceived through natural pregnancy (as the control group) were collected. High-throughput sequencing was used to screen the deafness gene mutation sites. Results：A total of 11 ART offspring were found to have deafness gene mutations, including 12 mutations in the gene locus. A total of 9 cases in the control group were found to carry deafness gene mutations, including 9 mutations in the gene locus. There was no statistically significance of the mutation incidence in the two groups ( χ2=0.962, P=0.327). In ART offspring, there were 2 cases of GJB2 mutation carrier (1.55%, male to female was 1∶1), 3 cases of GJB3 mutation carrier (2.33%, male to female was 1∶2), 7 cases of SLC26A4 mutation carrier (5.43%, male to female was 5∶2) and one case of GJB2 gene 235delC site and a SLC26A4 gene IVS7-2A>G site double heterozygous mutation. There was no mitochondrial 12S rRNA gene mutation carrier in those ART offspring. The mutation rate of gene locus was 11.83% (11/93) in the IVF group, and 2.78% (1/36) in the ICSI group, with no significant difference between the IVF group and the ICSI group ( χ2=2.520, P=0.112). The mutation rate of gene locus was 11.39% (9/79) in the fresh embryo transfer group, and 6.00% (3/50) in the frozen embryo transfer group, with no significant difference between the two groups ( χ2=1.055, P=0.304). Conclusions：The incidence of hereditary deafness gene mutations in ART offspring is similar with the offspring conceived through natural pregnancy. In ART offspring, the positive rate of SLC26A4 gene IVS7-2A＞G site mutation is the highest. There is no significant effect of the fertilization method and the fresh or frozen-thawed embryo transfer on the mutation rate of hereditary deafness in ART offspring.

Key words: Hereditary deafness, Reproductive techniques, assisted, Point mutation, Polymorphism, genetic;, High-throughput sequencing;, Genes, Mutation;, Genetic testing