Background: This study aimed to investigate the incidence of the hotspot mutations c.919-2A>G and c.2168A>G in SLC26A4 in the northwestern Chinese population.
Methods: A total of 2673 unrelated patients were recruited from northwestern China, and clinical information was obtained from all patients. Peripheral blood samples were acquired to detect the genotype of each patient by direct sequencing. Statistical analysis was conducted with Statistical Package for the Social Sciences 19.0 software.
Results: Overall, 118 patients (4.4%) were identified with biallelic mutations, including 84 (3.14%) homozygotes and 34 (1.27%) compound heterozygotes. Moreover, significant differences between Han and Uighur were identified regarding the frequencies of c.919-2A>G homozygous and biallelic mutations.
Conclusion: This model for the rapid screening of hotspot mutations can identify the molecular cause for 4.4% of patients with severe to profound sensorineural hearing loss in northwestern China, and there may be distinctive hotspot mutations in different ethnic populations.