Genetic mutations of deafness-related gene among pregnant women in Fujian province of South China

To analyze the mutations of deaf-related gene among pregnant women in Fujian province of South China and provide a prenatal diagnosis system for their families. 2000 peripheral blood of pregnant women in Fujian province of South China was collected, and the genetic mutations of four common deafness genes (GJB2, SLC26A4, mitochondrial 12SrRNA and GJB3) were detected by using hereditary deafness gene chip. In this study, 61 pregnant women were diagnosed with deafness genes mutation. The rate of deaf-related gene mutation was 3.05% (61/2000). Among them, 38 pregnant women have GJB2 mutation (1.9%, 38/2000), which contained 29 pregnant women with heterozygous 235 del C mutation and 9 pregnant women with heterozygous 299 del AT mutation. 16 pregnant women have SLC26A4 mutation (0.8%, 16/2000), which contained 13 pregnant women with heterozygous IVS7-2 A>G mutation and 3 cases with heterozygous 2168 A>G mutation. 3 pregnant women have heterozygous GJB3 538 C>T mutation (0.15%, 3/2000). 2 pregnant women have mitochondrial 12SrRNA homozygous 1555 A>G mutation (0.1%, 2/2000). In addition, one pregnant women have GJB2 heterozygous 235 del C and SLC26A4 heterozygous 2168 A>G mutations, and one have SLC26A4 heterozygous IVS7-2 A>G and 2168 A>G mutations. There are not same mutations of deaf-related genes in husband of 61 pregnant women, and follow-up with newborn hearing of 61 pregnant women was of all normal. In conclusion, deaf-related gene mutations were found among the investigated areas of Fujian province in pregnant women. A diagnostic system for deafness-related gene mutations in pregnant women may provide a basis for prenatal diagnosis and genetic counseling with nonsyndromic hearing loss.