Open AccessA novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens
Author(s) -
Huan Wu,
Yang Gao,
Cong Ma,
Qunshan Shen,
Jiajia Wang,
Mingrong Lv,
Chunyu Liu,
Hongju Cheng,
Fuxi Zhu,
Shixiong Tian,
Nagwa Elshewy,
Xiaoqing Ni,
Qing Tan,
Xiaofeng Xu,
Ping Zhou,
Zhaolian Wei,
Feng Zhang,
Xiaojin He,
Yunxia Cao
Publication year - 2020
Publication title -
journal of assisted reproduction and genetics
Language(s) - English
Resource type - Journals
eISSN - 1573-7330
pISSN - 1058-0468
DOI - 10.1007/s10815-020-01779-6
Subject(s) - vas deferens , infertility , male infertility , reproductive medicine , human genetics , medicine , gynecology , mutation , andrology , biology , genetics , endocrinology , pregnancy , gene
Cystic fibrosis transmembrane conductance regulator (CFTR) and adhesion G protein-coupled receptor G2 (ADGRG2) have been identified as the main pathogenic genes in congenital bilateral absence of the vas deferens (CBAVD), which is an important cause of obstructive azoospermia. This study aimed to identify the disease-causing gene in two brothers with CBAVD from a Chinese consanguineous family and reveal the intracytoplasmic sperm injection (ICSI) outcomes in these patients.