A rare frameshift variant in trans with the IVS9-5T allele of CFTR in a Chinese pedigree with congenital aplasia of vas deferens.

Bin GeMingzhe ZhangRuyi WangDejing WangTengyan LiHongjun LiBin-Bin Wang

Published in: Journal of assisted reproduction and genetics (2019)

Our findings may broaden the mutation spectrum of CFTR in CAVD patients and provide more familial evidence that the combination of a mild variant and a severe variant in trans of CFTR can cause vas deferens malformation.

Keyphrases

cystic fibrosis
end stage renal disease
ejection fraction
early onset
newly diagnosed
chronic kidney disease
prognostic factors
peritoneal dialysis
patient reported outcomes
drug induced