CONGENITAL BILATERAL ABSENCE OF VAS-DEFERENS WITH A NEW MISSENSE MUTATION (P499A) IN THE CFTR GENE

We describe a congenital bilateral absence of the vas deferens (CBAVD) patient with a compound heterozygosity in the cystic fibrosis transme mbrane regulator (CFTR) gene for a stop mutation W128X and a new misse nse mutation P499A. The P499A is interpreted as a mild mutation whose phenotypic effects, in this case limited to the development of wolffia n duct derivatives. are revealed only in combination with a severe CFT R mutation.