Variants in <i>CFTR</i> untranslated regions are associated with congenital bilateral absence of the vas deferens

Abstract

As the vas deferens seems to be one of the tissues most susceptible to a reduction in the normal CFTR transcripts levels, and as two mild mutations are sufficient to induce CBAVD phenotype, these findings raise the possibility that these uncommon variants may be a novel cause of CBAVD.