Vas deferens is susceptible to CFTR gene variant, and even a low level of CFTR transcripts in bronchial epithelial cells is sufficient for the maintenance of normal airway function, which might be one of the reasons for the absence of other clinical manifestations in CAVD patients with CFTR gene variants23,24. Here, CFTR is linked to congenital bilateral aplasia of vas deferens from CFTR mutation.