A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens-Reference-Cited by-同舟云学术

A novel hemizygous loss-of-function mutation in ADGRG2 causes male infertility with congenital bilateral absence of the vas deferens

Published:2020-04-20 Issue:6 Volume:37 Page:1421-1429
ISSN:1058-0468
Container-title:Journal of Assisted Reproduction and Genetics
language:en
Short-container-title:J Assist Reprod Genet

Author:

Wu Huan,Gao Yang,Ma Cong,Shen Qunshan,Wang Jiajia,Lv Mingrong,Liu Chunyu,Cheng Huiru,Zhu Fuxi,Tian Shixiong,Elshewy Nagwa,Ni Xiaoqing,Tan Qing,Xu Xiaofeng,Zhou Ping,Wei Zhaolian,Zhang Feng,He Xiaojin,Cao Yunxia

Funder

National Natural Science Foundation of China

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Developmental Biology,Obstetrics and Gynaecology,Genetics,Reproductive Medicine,General Medicine

Link

https://link.springer.com/content/pdf/10.1007/s10815-020-01779-6.pdf

Reference36 articles.

1. Wosnitzer MS, Goldstein M. Obstructive azoospermia. Urol Clin North Am. 2014;41:83–95.

2. Yu J, Chen Z, Ni Y, Li Z. CFTR mutations in men with congenital bilateral absence of the vas deferens (CBAVD): a systemic review and meta-analysis. Hum Reprod. 2012;27:25–35.

3. Chen H, Ruan YC, Xu WM, Chen J, Chan HC. Regulation of male fertility by CFTR and implications in male infertility. Hum Reprod Update. 2012;18:703–13.

4. Li H, Wen Q, Li H, Zhao L, Zhang X, Wang J, et al. Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens. J Cyst Fibros. 2012;11:316–23.

5. Yuan P, Liang ZK, Liang H, Zheng LY, Li D, Li J, et al. Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles. Andrology. 2019;7:329–40.

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