Journal article
Deleterious variants in X-linked CFAP47 induce asthenoteratozoospermia and primary male infertility
Chunyu Liu, Chaofeng Tu, Lingbo Wang, Huan Wu, Brendan J Houston, Francesco K Mastrorosa, Wen Zhang, Ying Shen, Jiaxiong Wang, Shixiong Tian, Lanlan Meng, Jiangshan Cong, Shenmin Yang, Yiwen Jiang, Shuyan Tang, Yuyan Zeng, Mingrong Lv, Ge Lin, Jinsong Li, Hexige Saiyin Show all
AMERICAN JOURNAL OF HUMAN GENETICS | CELL PRESS | Published : 2021
Abstract
Asthenoteratozoospermia characterized by multiple morphological abnormalities of the flagella (MMAF) has been identified as a sub-type of male infertility. Recent progress has identified several MMAF-associated genes with an autosomal recessive inheritance in human affected individuals, but the etiology in approximately 40% of affected individuals remains unknown. Here, we conducted whole-exome sequencing (WES) and identified hemizygous missense variants in the X-linked CFAP47 in three unrelated Chinese individuals with MMAF. These three CFAP47 variants were absent in human control population genome databases and were predicted to be deleterious by multiple bioinformatic tools. CFAP47 encode..
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Grants
Awarded by National Natural Science Foundation of China
Awarded by Shanghai Municipal Science and Technology Major Project
Awarded by China Postdoctoral Science Foundation
Awarded by State Key Laboratory of Reproductive Medicine
Awarded by Science and Technology Major Project of Inner Mongolia Autonomous Region of China
Awarded by key grant of prevention and treatment of birth defect from Hunan Province
Awarded by National Key Research and Developmental Program of China
Awarded by Shanghai Municipal Commission for Science and Technology
Awarded by Foundation of the Department of Science and Technology of Anhui Province
Awarded by Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences
Awarded by National Key Research and Development Program of China
Awarded by Agence Nationale pour la Recherche
Awarded by Innovative Research Team of High-level Local Universities in Shanghai
Awarded by National Health and Medical Research Council
Awarded by Investigator Award in Science from TheWellcome Trust
Funding Acknowledgements
We would like to thank the families for participating and supporting this study. We also thank the Center of Cryo-electron Microscopy at Zhejiang University for technical support. This work was supported by National Natural Science Foundation of China (31625015, 31521003, 81971447, 81971441, 81871216, 81901541, and 81601340), Shanghai Municipal Science and Technology Major Project (2017SHZDZX01), China Postdoctoral Science Foundation (2020TQ0072 and 2019M662786), State Key Laboratory of Reproductive Medicine (SKLRM-K202002), Science and Technology Major Project of Inner Mongolia Autonomous Region of China (zdzx2018065), the key grant of prevention and treatment of birth defect from Hunan Province (2019SK1012), the National Key Research and Developmental Program of China (2018YFC1004900), Shanghai Municipal Commission for Science and Technology (19QA1407500 and 18ZR1432300), Foundation of the Department of Science and Technology of Anhui Province (2017070802D150), the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences (2019PT310002), the National Key Research and Development Program of China (2016YFC1000204), the Agence Nationale pour la Recherche (FLAGEL-OME ANR-19-CE17-0014), and Innovative Research Team of High-level Local Universities in Shanghai (SSMUZLCX20180500). The sequencing and analysis of Australian patients was supported in part by a grant from the National Health and Medical Research Council (APP1120356) and an Investigator Award in Science from TheWellcome Trust (209451). We acknowledge the ongoing support of Professor Rob McLachlan and the Monash IVF Group of infertility clinics in Australia for their role in patient recruitment and treatment.