Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia

Wangjie Liu; Huan Wu; Li Wang; Xiaoyu Yang; Chunyu Liu; Xiaojin He; Weiyu Li; Jiajia Wang; Yujie Chen; Hongyan Wang; Yang Gao; Shuyan Tang; Shenmin Yang; Li Jin; Feng Zhang; Yunxia Cao

doi:10.1016/j.jgg.2018.09.006

Homozygous loss-of-function mutations in FSIP2 cause male infertility with asthenoteratospermia

J Genet Genomics. 2019 Jan 20;46(1):53-56. doi: 10.1016/j.jgg.2018.09.006. Epub 2018 Dec 6.

Authors

Wangjie Liu¹, Huan Wu², Li Wang³, Xiaoyu Yang⁴, Chunyu Liu³, Xiaojin He², Weiyu Li³, Jiajia Wang², Yujie Chen², Hongyan Wang³, Yang Gao², Shuyan Tang³, Shenmin Yang⁵, Li Jin³, Feng Zhang⁶, Yunxia Cao⁷

Affiliations

¹ Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Fudan University, Shanghai, 200011, China; Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211116, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, 200011, China.
² Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, 230022, China; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, 230022, China.
³ Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Fudan University, Shanghai, 200011, China.
⁴ Clinical Center of Reproductive Medicine, The First Affiliated Hospital of Nanjing Medical University, Nanjing, 210029, China.
⁵ Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, 215002, China.
⁶ Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Fudan University, Shanghai, 200011, China; Center for Global Health, School of Public Health, Nanjing Medical University, Nanjing, 211116, China; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, 200011, China. Electronic address: zhangfeng@fudan.edu.cn.
⁷ Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China; Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, Hefei, 230022, China; Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, Hefei, 230022, China. Electronic address: caoyunxia6@126.com.

PMID: 30745215
DOI: 10.1016/j.jgg.2018.09.006

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Asthenozoospermia / genetics*
Axonemal Dyneins / genetics*
Base Sequence
Homozygote*
Humans
Male
Mutation*
Seminal Plasma Proteins / genetics*

Substances

FSIP2 protein, human
Seminal Plasma Proteins
Axonemal Dyneins