In view of the unclear pathogenic mechanism of CBAVD in some males, association with CF and the lack of heterozygous frequency data in Chinese population, our research on the mutational spectrum of CFTR or ADGRG2 genes will be helpful for the diagnosis of this disease and the risk assessment of preimplantation genetics. Here, CFTR is linked to congenital bilateral aplasia of vas deferens from CFTR mutation.