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Genetic pathogenesis of acephalic spermatozoa syndrome:past,present,and future

Asian Journal of Andrology 2022年第3期24卷 231-237页

作者： Yu Wang Ming-Fei Xiang Na Zheng Yun-Xia Cao Fu-Xi Zhu Reproductive Medicine Center Department of Obstetrics and GynecologyThe First Affiliated Hospital of Anhui Medical UniversityHefei 230022China NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract Anhui Medical UniversityHefei 230032China Key Laboratory of Population Health Across Life Cycle Anhui Medical UniversityMinistry of Education of the People’s Republic of ChinaHefei 230032China Anhui Province Key Laboratory of Reproductive Health and Genetics Anhui Medical UniversityHefei 230022China

acephalic spermatozoa syndrome(ASS)is one of the most severe spermatogenic failures of all infertility in men.The cognition of ASS has experienced a tortuous process.Over the past years,with the in-depth understanding of spermatogenesis and the emergence of new genetic research technologies,the unraveling of the genetic causes of spermatogenic failure has become highly active.From these advances,we established a genetic background and made significant progress in the discovery of the genetic causes of ASS.It is important to identify pathogenic genes and mutations in ASS to determine the biological reasons for the occurrence of the disease as well as provide genetic diagnosis and treatment strategies for patients with this syndrome.In this review,we enumerate various technological developments,which have made a positive contribution to the discovery of candidate genes for ASS from the past to the present.Simultaneously,we summarize the known genetic etiology of this phenotype and the clinical outcomes of treatments in the present.Furthermore,we propose perspectives for further study and application of genetic diagnosis and assisted reproductive treatment in the future.

关键词： acephalic spermatozoa syndrome genetic pathogenesis male infertility

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

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Asian Journal of Andrology 2022年第1期24卷 67-72页

作者： You-Zhu Li Na Li Wen-Sheng Liu Yan-Wei Sha Rong-Feng Wu Ya-Ling Tang Xing-Shen Zhu Xiao-Li Wei Xiao-Ya Zhang Yi-Feng Wang Zhong-Xian Lu Fu-Xing Zhang Reproductive Medicine Center The First Affiliated Hospital of Xiamen UniversityXiamen 361003China Intensive Care Unit Fujian Medical University Xiamen Humanity HospitalXiamen 361009China Obstetrics and Gynecology Center Department of Obstetrics and GynecologyZhujiang HospitalSouthern Medical UniversityGuangzhou 510280China School of Pharmaceutical Sciences State Key Laboratory of Cellular Stress BiologyXiamen UniversityXiamen 361102China Department of Andrology United Diagnostic and Research Center for Clinical GeneticsWomen and Children’s Hospital and School of MedicineXiamen UniversityXiamen 361005China Department of Obstetrics and Gynecology First Affiliated Hospital of Xiamen UniversityXiamen 361003China Department of General Surgery First Affiliated Hospital of Xiamen UniversityXiamen 361003China

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 centrioleassociated 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.

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

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Compound heterozygous mutations in PMFBP1 cause acephalic spermatozoa syndrome:A case report

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World Journal of Clinical Cases 2022年第34期10卷 12761-12767页

作者： Tian-Qin Deng Yu-Li Xie Jiang-Bo Pu Jiang Xuan Xue-Mei Li Reproductive Medical Center Affiliated Shenzhen Maternity&Child Healthcare HospitalSouthern Medical UniversityShenzhen 518028Guangdong ProvinceChina Newborn Screening Center Affiliated Shenzhen Maternity&Child Healthcare HospitalSouthern Medical UniversityShenzhen 518028Guangdong ProvinceChina

BACKGROUND acephalic spermatozoa syndrome(ASS)is an extremely rare form of severe teratozoospermia,where in most of the sperm either appear to lack heads or have disconnected or poorly connected heads and tails.CASE SUMMARY We reported the case of a male patient with secondary infertility whose sperm showed typical ASS upon morphological analysis.Whole-exome sequencing was performed on the patient’s peripheral blood,which revealed two heterozygous variants of the PMFBP1 gene:PMFBP1c.414+1G>T(p.?)and PMFBP1c.393del(p.C132Afs*3).CONCLUSION It is speculated that the compound homozygous mutation of PMFBP1 may be the cause of ASS.We conducted a literature review in order to provide the basis for genetic counseling and clinical diagnosis of patients with ASS.

关键词： acephalic spermatozoa syndrome PMFBPI Infertility Male Sperm Case report

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