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PMID 31413122
Gene Name CFAP65
Condition Asthenoteratospermia due to acrosome hypoplasia and flagellum malformations
Association Associated
Mutation c.G5341T:p.E1781X, c.C2284T:p.R762X and c.1751delC:p.P584fs, c.5714_5721del:p.L1905fs and c.C3021A:p.N1007K
Population size 1321
Population details 1321 (47 individuals with severe asthenozoospermia,219 with oligoasthenospermia, 195 with non-obstructive azoospermia and 223 fertile controls )
Sex Male
Infertility type Male infertility
Associated genes NGS


Biallelic mutations in CFAP65 lead to severe asthenoteratospermia due to acrosome hypoplasia and flagellum malformations

Wang W, Tu C, Nie H, Meng L, Li Y, Yuan S, Zhang Q, Du J, Wang J, Gong F, Fan L, Lu GX, Lin G, Tan YQ.

BACKGROUND: The genetic causes for most male infertility due to severe asthenozoospermia remain unclear. OBJECTIVE: Our objective was to identify unknown genetic factors in 47 patients with severe asthenozoospermia from 45 unrelated Chinese families. METHODS: We performed whole exome sequencing of 47 individuals with severe asthenozoospermia from 45 unrelated families. Mutation screening was performed in a control cohort of 637 individuals, including 219 with oligoasthenospermia, 195 with non-obstructive azoospermia and 223 fertile controls. Ultrastructural and immunostaining analyses of patients' spermatozoa were performed to characterise the effect of variants. RESULTS: One homozygous non-sense mutation (NM_194302, c.G5341T:p.E1781X), two compound heterozygous mutations (c.C2284T:p.R762X and c.1751delC:p.P584fs) and two compound heterozygous mutations (c.5714_5721del:p.L1905fs and c.C3021A:p.N1007K) were identified in CFAP65 of three individuals with completely immotile spermatozoa, respectively. No biallelic deleterious variants of CFAP65 were detected in the control cohort of 637 individuals. Ultrastructural and immunostaining analyses of spermatozoa from two patients showed highly aberrant sperm morphology with severe defects such as acrosome hypoplasia, disruption of the mitochondrial sheath and absence of the central pair complex. CONCLUSION: To the best of our knowledge, we are the first to report that CFAP65 mutations may cause spermatozoa to be completely immotile. CI - © Author(s) (or their employer(s)) 2019. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. FAU - Wang, Weili AU - Wang W AD - Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China. FAU - Tu, Chaofeng AU - Tu C AD - Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China. AD - Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China. FAU - Nie, Hongchuan AU - Nie H AD - Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China. AD - Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China. FAU - Meng, Lanlan AU - Meng L AD - Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China. FAU - Li, Yong AU - Li Y AD - Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China. FAU - Yuan, Shimin AU - Yuan S AD - Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China. FAU - Zhang, Qianjun AU - Zhang Q AD - Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China. AD - NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, Changsha, China. FAU - Du, Juan AU - Du J AD - Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China. AD - Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China. FAU - Wang, Junpu AU - Wang J AD - Department of Pathology, School of Basic Medical Science, Central South University, Changsha, China. FAU - Gong, Fei AU - Gong F AD - Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China. AD - Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China. FAU - Fan, Liqing AU - Fan L AD - Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China. AD - Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China. FAU - Lu, Guang-Xiu AU - Lu GX AD - Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China. AD - National Engineering and Research Center of Human Stem Cell, Changsha, China. FAU - Lin, Ge AU - Lin G AUID- ORCID: 0000-0002-2595-7314 AD - Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, China. AD - Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China.