Open AccessA rare frameshift variant in trans with the IVS9-5T allele of CFTR in a Chinese pedigree with congenital aplasia of vas deferens
Author(s) -
Bin Ge,
Mingzhe Zhang,
Ruyi Wang,
Dejing Wang,
Tengyan Li,
Hongjun Li,
Binbin Wang
Publication year - 2019
Publication title -
journal of assisted reproduction and genetics
Language(s) - English
Resource type - Journals
eISSN - 1573-7330
pISSN - 1058-0468
DOI - 10.1007/s10815-019-01617-4
Subject(s) - frameshift mutation , compound heterozygosity , vas deferens , genetics , cystic fibrosis , male infertility , medicine , exome sequencing , allele , azoospermia , aplasia , mutation , pathology , biology , infertility , gene , pregnancy
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 order to determine the genetic cause of this familial disorder.