The role of the F508C mutation in congenital bilateral absence of the vas deferens.
OBJECTIVE
Congenital bilateral absence of the vas deferens is a pathologic condition associated with normal spermatogenesis, azoospermia, and lack of both vasa deferentia. A significant association between mutations in the cystic fibrosis transmembrane conductance regulator gene among men with congenital bilateral absence of the vas deferens has been established. The objective of this study was to determine whether the F508C variant in the cystic fibrosis transmembrane conductance regulator gene has a significant effect on congenital bilateral absence of the vas deferens prevalence, when present in conjunction with a second cystic fibrosis transmembrane conductance regulator disease causing mutation.


RESULTS
We compared the frequency of F508C in male subjects submitted for diagnostic testing on suspicion of cystic fibrosis or during cystic fibrosis carrier screening, to men with a clinical diagnosis of congenital bilateral absence of the vas deferens. Although frequencies of F508C did not vary significantly between 850 individuals undergoing cystic fibrosis carrier screening and those submitted for diagnostic testing on suspicion of cystic fibrosis, the frequency of F508C in the congenital bilateral absence of the vas deferens population was significantly higher than expected (chi2 = 6.95, corrected P = 0.0486).


CONCLUSIONS
We conclude that the F508C variant in cystic fibrosis transmembrane conductance regulator may represent a pathogenic defect and lead to congenital bilateral absence of the vas deferens when combined with a second cystic fibrosis transmembrane conductance regulator mutation.
Havasi
Viktoria
V
Gregory Fleming James Cystic Fibrosis Research Center, University of Alabama at Birmingham, Alabama 35294, USA. vhavasi@uab.edu
Keiles
Steven
S
Hambuch
Tina
T
Sorscher
Eric J
EJ
Kammesheidt
Anja
A
D003550:Cystic Fibrosis / Q000235:genetics / Q000473:pathology; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004252:DNA Mutational Analysis; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D009845:Oligospermia / Q000235:genetics / Q000473:pathology; D010641:Phenotype; D014649:Vas Deferens / Q000002:abnormalities* / Q000473:pathology
D019005:Cystic Fibrosis Transmembrane Conductance Regulator