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Volume 24, Issue 1 (January 2022) 24, 67–72; 10.4103/aja.aja_56_21

Biallelic mutations in spermatogenesis and centriole-associated 1 like (SPATC1L) cause acephalic spermatozoa syndrome and male infertility

You-Zhu Li1, Na Li2, Wen-Sheng Liu3,4, Yan-Wei Sha5, Rong-Feng Wu1, Ya-Ling Tang6, Xing-Shen Zhu4, Xiao-Li Wei4, Xiao-Ya Zhang4, Yi-Feng Wang3, Zhong-Xian Lu4, Fu-Xing Zhang7

1 Reproductive Medicine Center, The First Affiliated Hospital of Xiamen University, Xiamen 361003, China
2 Intensive Care Unit, Fujian Medical University Xiamen Humanity Hospital, Xiamen 361009, China
3 Obstetrics and Gynecology Center, Department of Obstetrics and Gynecology, Zhujiang Hospital, Southern Medical University, Guangzhou 510280, China
4 School of Pharmaceutical Sciences, State Key Laboratory of Cellular Stress Biology, Xiamen University, Xiamen 361102, China
5 Department of Andrology, United Diagnostic and Research Center for Clinical Genetics, Women and Children's Hospital and School of Medicine, Xiamen University, Xiamen 361005, China
6 Department of Obstetrics and Gynecology, First Affiliated Hospital of Xiamen University, Xiamen 361003, China
7 Department of General Surgery, First Affiliated Hospital of Xiamen University, Xiamen 361003, China

Correspondence: Dr. FX Zhang (zhangfuxing@medmail.com.cn) or Dr. ZX Lu (zhongxian@xmu.edu.cn)

Date of Submission 24-Oct-2020 Date of Acceptance 12-May-2021 Date of Web Publication 25-Jun-2021


Acephalic spermatozoa syndrome is a rare type of teratozoospermia that severely impairs the reproductive ability of male patients, and genetic defects have been recognized as the main cause of acephalic spermatozoa syndrome. Spermatogenesis and centriole-associated 1 like (SPATC1L) is indispensable for maintaining the integrity of sperm head-to-tail connections in mice, but its roles in human sperm and early embryonic development remain largely unknown. Herein, we conducted whole-exome sequencing (WES) of 22 infertile men with acephalic spermatozoa syndrome. An in silico analysis of the candidate variants was conducted, and WES data analysis was performed using another cohort consisting of 34 patients with acephalic spermatozoa syndrome and 25 control subjects with proven fertility. We identified biallelic mutations in SPATC1L (c.910C>T:p.Arg304Cys and c.994G>T:p.Glu332X) from a patient whose sperm displayed complete acephalia. Both SPATC1L variants are rare and deleterious. SPATC1L is mainly expressed at the head–tail junction of elongating spermatids. Plasmids containing pathogenic variants decreased the level of SPATC1L in vitro. Moreover, none of the patient's four attempts at intracytoplasmic sperm injection (ICSI) resulted in a transplantable embryo, which suggests that SPATC1L defects might affect early embryonic development. In conclusion, this study provides the first identification of SPATC1L as a novel gene for human acephalic spermatozoa syndrome. Furthermore, WES might be applied for patients with acephalic spermatozoa syndrome who exhibit reiterative ICSI failures.

Keywords: acephalic spermatozoa syndrome; biallelic mutations; spermatogenesis and centriole-associated 1 like; whole-exome sequencing

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