MILD CF IN A DELTA-F508 R347H COMPOUND HETEROZYGOTE WOMAN - DOES THE MANIFESTATION OF THIS GENOTYPE DIFFER IN THE 2 SEXES/

A woman with unusually mild cystic fibrosis (CF) and normal sweat chlo ride levels is reported to have Delta F508 deletion on one CF chromoso me and the rare mutation R347H on the other, the first known female wi th this mutation. Of the other eight cases with R347H mutation mention ed in the literature, all five patients whose age and sex were given i n the reports were men and had congenital bilateral absence of vas def erens (CBAVD). Considering these data, it is not unrealistic to assume that R347H associates more frequently than other CF mutations with CB AVD, which would mean that the clinical significance of this mutation might differ in males and females.