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PMID 30310178
Gene Name CFAP251
Condition Sperm flagellar defects, human male infertility
Association Associated
Sex Male
Infertility type Male infertility
Other associated phenotypes Sperm flagellar defects, human male infertility


Biallelic mutations of CFAP251 cause sperm flagellar defects and human male infertility

Li W, He X, Yang S, Liu C, Wu H, Liu W, Lv M, Tang D, Tan J, Tang S, Chen Y, Wang J, Zhang Z, Wang H, Jin L, Zhang F, Cao Y.

Multiple morphological abnormalities of flagella (MMAF) are human reproduction disorders due to the dysplastic development of sperm flagella. The spermatozoa of men with MMAF manifest absent, short, coiled, bent, and/or irregular-caliber flagella. Previous studies revealed genetic contributions to human MMAF, but known MMAF-associated genes only explained approximately 50% MMAF cases. In this study, we employed human whole-exome sequencing for genetic analysis and identified biallelic mutations of CFAP251 (cilia- and flagella-associated protein 251, also known as WDR66) in three (5%) of 65 Han Chinese men with MMAF. All these CFAP251 mutations are loss-of-function. The population genome data suggested that these CFAP251 mutations are extremely rare (only heterozygous) or absent from human populations. Our functional assays of gene expression and immunofluorescence staining in a CFAP251-deficient man, together with previous experimental evidence from model organisms, suggested that CFAP251 is involved in flagellar functions. Our observations suggested that CFAP251 is associated with sperm flagellar development and human male infertility. FAU - Li, Weiyu AU - Li W AD - Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Fudan University, 200011, Shanghai, China. FAU - He, Xiaojin AU - He X AD - Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, 230022, Hefei, China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, 230022, Hefei, China. AD - Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, 230022, Hefei, China. FAU - Yang, Shenmin AU - Yang S AD - Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, 215002, Suzhou, China. AD - Suzhou Municipal Hospital, 215002, Suzhou, China. FAU - Liu, Chunyu AU - Liu C AD - Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Fudan University, 200011, Shanghai, China. FAU - Wu, Huan AU - Wu H AD - Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, 230022, Hefei, China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, 230022, Hefei, China. AD - Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, 230022, Hefei, China. FAU - Liu, Wangjie AU - Liu W AD - Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Fudan University, 200011, Shanghai, China. FAU - Lv, Mingrong AU - Lv M AD - Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, 230022, Hefei, China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, 230022, Hefei, China. AD - Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, 230022, Hefei, China. FAU - Tang, Dongdong AU - Tang D AD - Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, 230022, Hefei, China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, 230022, Hefei, China. AD - Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, 230022, Hefei, China. FAU - Tan, Jing AU - Tan J AD - Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, 230022, Hefei, China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, 230022, Hefei, China. AD - Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, 230022, Hefei, China. FAU - Tang, Shuyan AU - Tang S AD - Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Fudan University, 200011, Shanghai, China. FAU - Chen, Yujie AU - Chen Y AD - Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, 230022, Hefei, China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, 230022, Hefei, China. AD - Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, 230022, Hefei, China. FAU - Wang, Jiajia AU - Wang J AD - Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, 230022, Hefei, China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, 230022, Hefei, China. AD - Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, 230022, Hefei, China. FAU - Zhang, Zhiguo AU - Zhang Z AD - Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, 230022, Hefei, China. AD - Anhui Province Key Laboratory of Reproductive Health and Genetics, Anhui Medical University, 230022, Hefei, China. AD - Anhui Provincial Engineering Technology Research Center for Biopreservation and Artificial Organs, 230022, Hefei, China. FAU - Wang, Hongyan AU - Wang H AD - Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Fudan University, 200011, Shanghai, China. FAU - Jin, Li AU - Jin L AD - Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Fudan University, 200011, Shanghai, China. FAU - Zhang, Feng AU - Zhang F AUID- ORCID: 0000-0003-4556-8276 AD - Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), School of Life Sciences, Fudan University, 200011, Shanghai, China. zhangfeng@fudan.edu.cn. AD - Center for Global Health, School of Public Health, Nanjing Medical University, 211116, Nanjing, China. zhangfeng@fudan.edu.cn. AD - Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, 200011, Shanghai, China. zhangfeng@fudan.edu.cn.