[Analysis of genotypes and audiological characteristics of children with SLC26A4 gene pathogenic mutations].

The mutation sites of SLC26A4 gene were mainly IVS7-2A> G, and the degree of hearing loss was mostly profound. To the audiometric configurations,SLC26A4 gene homozygous mutant were mainly high frequency loss type, while SLC26A4 gene compound heterozygous mutant were mainly flat type. 34.29% children passed universal newborn hearing screening with one ear at least, which indicates SLC26A4 gene mutations can result in late-onset hearing loss, so those patients should be attached great importance..