Biallelic mutations in spermatogenesis and centriole-associated 1 like (SPATC1L) cause acephalic spermatozoa syndrome and male infertility / 亚洲男科学杂志(英文版)

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.

Endemic situation of schistosomiasis in a national surveillance site of Yangzhong City from 2015 to 2018 / 中国血吸虫病防治杂志

Objective To analyze the endemic situation of schistosomiasis in a national surveillance site of Yangzhong City, so as to provide the scientific evidence for adjusting the local schistosomiasis control strategy and consolidating the control achievements. Methods According to the National Schistosomiasis Surveillance Scheme (2014 version), the snail status, Schistosoma japonicum infections in humans and livestock and wild feces contamination were monitored in Zhinan Village, a national schistosomiasis surveillance site in Yangzhong City from 2015 to 2018. Results Theareasofsnailhabitatsreducedfrom 8.10 hm2 in 2015 to 2.72 hm2 in 2018, and the mean density of living snails decreased from 0.27 snails/0.1 m2 in 2015 to 0.07 snails/0.1 m2 in 2018 in Zhinan Village; however, no S. japonicum infections were identified in snails during the period from 2015 to 2018. Serological testing for S. japonicum infections was performed in 2 034 local populations and 858 mobile populations from 2015 to 2018, and the sero-prevalence of S. japonicum human infections was 0.59% to 1.98%, with no egg-positives detected. A total of 79 goats were detected for S. japonicum infections from 2015 to 2018, and no egg-positives were found. In addition, no other livestock was found in Zhinan Village from 2015 to 2018, and no wild feces were found in snail habitats. Conclusions A great success has been achieved in schistosomiasis control in Yangzhong City; however, there are still snails breeding in the city. Monitoring of the risk factors pertaining to schistosomiasis transmission should be further intensified to consolidate the control achievements.