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Article

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

Journal of assisted reproduction and genetics - 1 Dec 2019

Ge Bin, Zhang Mingzhe, Wang Ruyi, Wang Dejing, Li Tengyan, Li Hongjun, Wang Binbin

Abstract excerpt

PURPOSE: Congenital aplasia of vas deferens (CAVD) is an atypical form of cystic fibrosis (CF) and causes obstructive azoospermia and male infertility. Compound heterozygous variants of CFTR are the main cause of CAVD. However, most evidence comes from genetic screening of sporadic cases and little is from pedigree analysis. In this study, we performed analysis in a Chinese pedigree with two CAVD patients in...

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Identifiers

PMID: 31709488
DOI: 10.1007/s10815-019-01617-4
PMCID: PMC6911126

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