Unlike Caucasian CBAVD patients which approximately 70% cases carried p.F508del CFTR mutation (Fiore et al., 2020; Sanseverino et al., 2022), c.2909G>A variant was the most common CFTR mutation type in Chinese CBAVD patients, but only accounting for 11% of cases (Cai & Li, 2022; Shao et al., 2020). Here, CFTR is linked to congenital bilateral aplasia of vas deferens from CFTR mutation.