Whole-exome sequencing of a large Chinese azoospermia and severe oligospermia cohort identifies novel infertility causative variants and genes.,Human Molecular Genetics

当前位置： X-MOL 学术 › Hum. Mol. Genet. › 论文详情

Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)

Whole-exome sequencing of a large Chinese azoospermia and severe oligospermia cohort identifies novel infertility causative variants and genes.
Human Molecular Genetics ( IF 3.5 ) Pub Date : 2020-05-29 , DOI: 10.1093/hmg/ddaa101
Shitao Chen ₁ , Guishuan Wang ₂ , Xiaoguo Zheng ₁ , Shunna Ge ₁ , Yubing Dai ₁ , Ping Ping ₃ , Xiangfeng Chen ₃ , Guihua Liu ₄ , Jing Zhang ₄ , Yang Yang ₅ , Xinzong Zhang ₆ , An Zhong ₆ , Yongtong Zhu ₇ , Qingjun Chu ₇ , Yonghan Huang ₈ , Yong Zhang ₉ , Changli Shen ₁₀ , Yiming Yuan ₁₁ , Qilong Yuan ₁₂ , Xiuying Pei ₁₃ , C Yan Cheng ₁₄ , Fei Sun _{1,

2}

Affiliation

International Peace Maternity and Child Health Hospital, Shanghai Key Laboratory for Reproductive Medicine, School of Medicine, Shanghai Jiaotong University, Shanghai, 200030, China.
Institute of Reproductive Medicine, School of Medicine, Nantong University, Nantong, 226001, China.
Department of Urology, Shanghai Human Sperm Bank, Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, 200120, China.
Department of Andrology, Reproductive Medicine Research Center, the Sixth Affiliated Hospital of Sun Yat-sen University, Guangzhou, 510655, China.
Department of Reproduction, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, 100026, China.
Key Laboratory of Male Reproduction and Genetics, National Health and Family Planning Commission, Family Planning Research Institute of Guangdong Province, Guangzhou, 510031, China.
Department of Obstetrics and Gynecology, Reproductive Medicine Center, Nanfang Hospital, Southern Medical University, Guangzhou, 510515, China.
The First People's Hospital of Foshan, Sun Yat-sen University, Foshan, 528000, China.
Center of Assisted Reproductive Medicine, The Sixth Medical Center of PLA General Hospital, Beijing, 100083, China.
Reproductive Center, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, 510120, China.
Peking University First Hospital Andrology Center & Urology Department, Beijing, 100034, China.
Guangdong Province Hospital of Chinese Medicine, Guangzhou, 510140, China.
Key Laboratory of Fertility Preservation and Maintenance of Ministry of Education, School of Basic Medicine, Ningxia Medical University, Yinchuan, 750004, China.
The Mary M. Wohlford Laboratory for Male Contraceptive Research, Center for Biomedical Research, Population Council, New York, 10065, USA.

Rare coding variants have been proven to be one of the significant factors contributing to spermatogenic failure in patients with non-obstructive azoospermia (NOA) and severe oligospermia (SO). To delineate the molecular characteristics of idiopathic NOA and SO, we performed whole-exome sequencing of 314 unrelated patients of Chinese Han origin and verified our findings by comparing to 400 fertile controls. We detected six pathogenic/likely pathogenic variants and four variants of unknown significance, in genes known to cause NOA/SO, and 9 of which had not been earlier reported. Additionally, we identified 20 novel NOA candidate genes affecting 25 patients. Among them, five (BRDT, CHD5, MCM9, MLH3 and ZFX) were considered as strong candidates based on the evidence obtained from murine functional studies and human single-cell (sc)RNA-sequencing data. These genetic findings provide insight into the aetiology of human NOA/SO and pave the way for further functional analysis and molecular diagnosis of male infertility.

更新日期：2020-05-29

点击分享查看原文

点击收藏

阅读更多本刊最新论文本刊介绍/投稿指南

全部期刊列表>>