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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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Genetic factors contributing to human primary ciliary dyskinesia and male infertility

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Asian Journal of Andrology 2017年第5期19卷 515-520页

作者： Zhi-Yong Ji yan-wei sha Lu Ding Ping Li The Center for Reproductive Medicine Xiamen Maternity and Child Care Hospital No. 10 Zhenhai Road Xiamen China

Primary ciliary dyskinesia （PCD） is an autosomal-recessive disorder resulting from the loss of normal ciliary function. Symptoms include neonatal respiratory distress, chronic sinusitis, bronchiectasis, situs inversus, and infertility. However, only 15 PCD-associated genes have been identified to cause male infertility to date. Owing to the genetic heterogeneity of PCD, comprehensive molecular genetic testing is not considered the standard of care. Here, we provide an update of the progress on the identification of genetic factors related to PCD associated with male infertility, summarizing the underlying molecular mechanisms, and discuss the clinical implications of these findings. Further research in this field will impact the diagnostic strategy for male infertility, enabling clinicians to provide patients with informed genetic counseling, and help to adopt the best course of treatment for developing directly targeted personalized medicine.

关键词： genetic factors Kartagener syndrome male infertility primary ciliary dyskinesia

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First successful pregnancy outcome after intracytoplasmic sperm injection with short-tailed sperm from an infertile Han Chinese man

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Asian Journal of Andrology 2017年第5期19卷 613-614页

作者： yan-wei sha Qing Zhang Lu Ding Ping Li The Center for Reproductive Medicine Xiamen Maternity and Child Care HospitalXiamen Fujian Province China

Dear Editor, Short-tailed sperms are rarely encountered in clinical practice, but they make achieving fertilization difficult. We encountered a very rare case of an infertile man having short-tailed sperm. A 32-year-old Chinese farmer and his 27-year-old wife were referred to Xiamen Maternity and Child Care Hospital for a fertility evaluation.

关键词： MOTILITY PROTEINS DEFECT

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A successful pregnancy by intracytoplasmic sperm injection using ejaculate sperm from an infertile man with 46, XX/46, XY true hermaphrodite

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Asian Journal of Andrology 2017年第6期19卷 721-722页

作者： yan-wei sha yan-Kun sha Lu Ding shao-Bin Lin Zhi-Yong Ji Xu Wang Yue-Qiang Song Ping Li Center for Reproductive Medicine Xiamen Maternity and Child Care HospitalXiamen 361003 China Department of Nephrology First Affiliated Hospital ofLiaoning Medical University Jinzhou 121000 China.

Dear Editor, True hermaphroditism is a condition in which the gonads, genital morphology, and sexuality simultaneously show both male and female characteristics （ovaries and testes） or in which both types of gonadal tissue exist in a single gonad （known as an ovariotestis）. True hermaphroditism associated with a chimeric or 46, XX/46, XY karyotype is extremely rare, and the genitalia of those affected can be characterized as female, male, or mixed.1-3 The cause of true hermaphroditism has not been determined because the condition is relatively rare and has a diverse phenotype.4

关键词： intracytoplasmic ejaculate hermaphrodite

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Case study of a patient with cryptozoospermia associated with a recessive TEX15 nonsense mutation

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Asian Journal of Andrology 2018年第1期20卷 101-102页

作者： Xiong Wang Hai-Rong Jin Yuan-Qing Cui Jie Chen yan-wei sha Zhen-Li Gao Reproductive Medicine Center Affiliated Yantai Yuhuangding Hospital of Qingdao University 20 Yuhuangding East Road Yantai 264000 China Department of Urological Surgery Affiliated Yantai Yuhuangding Hospital of Qingdao University 20 Yuhuangding East Road Yantai 264000 China Department of Reproductive Medicine Xiamen Maternity and Child Care Hospital No. 10 Zhenhai Road Xiamen 361003. China

Dear Editor, Male infertility, which affects approximately 20 million people worldwide, is commonly caused by spermatogenic dysfunctions, including severe oligozoospermia, cryptozoospermia, and nonobstructive azoospe... 详细信息

关键词： SPERMATOGENIC FAILURE MALE-INFERTILITY GENETICS

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Diagnosis of a Chinese man with 45,X/46,X,i（Y）（q10）/47,X,i（Y）（q10） ×2 mosaic Turner syndrome

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Asian Journal of Andrology 2018年第2期20卷 205-207页

作者： yan-wei sha Lu Ding Zhi-Yong Ji Yun-Sheng Ge Hui Kong Qing Zhang Yu-Lin Zhou Ping Li Department of Reproductive Medicine Maternal and Child Health Hospital of Xiamen Xiamen 361005 China Genetics Laboratory Maternal and Child Health Hospital of Xiamen Xiamen 361005 China

Turner syndrome （TS）, characterized by the complete or partial absence of an X chromosome, is the only known viable chromosomal monosomy. It is one of the most common sex chromosome abnormalities in women, but it ca...

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Globozoospermic infertility associated with balanced DPY19L2 translocation/gene deletion at the chromosomal breakpoint

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Asian Journal of Andrology 2018年第2期20卷 210-211页

作者： yan-wei sha Li-Bin Mei Liang-Kai Zheng Rui-Hua Tian Lu Ding Zhi-Yong Ji Qing Zhang Ping Li Center for Reproductive Medicine Women and Children's Hospital of Xiamen Xiamen 361003 China Department of Pathology Women and Children's Hospita of Xiamen Xiamen 361003 China

We report here a rare case ofDPY19L2 gene deletion at chromosome 12 breakpoints caused by a 46, XY, t （4; 12）; （q27; qlS） balanced translocation. The patient eventually developed globozoospermia. A 32-year-old male had experienced infertility issues for 4 years.The patient exhibited normal appearance, intelligence, and body type, with a height of 175 cm and a weight of 75 kg.

关键词： ACROSOME

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Management of primary ciliary dyskinesia/Kartagener＇s syndrome in infertile male patients and current progress in defining the underlying genetic mechanism

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Asian Journal of Andrology 2014年第1期16卷 101-106页

作者： yan-wei sha Lu Ding Ping Li Reproductive Medicine Center Maternal and Child Health Hospital of Xiamen Xiamen China

Kartagener＇s syndrome （KS） is an autosomal recessive genetic disease accounting for approximately 50% of the cases of primary ciliary dyskinesia （PCD）. As it is accompanied by many complications, PCD/KS severely affects the patient＇s quality of life. Therapeutic approaches for PCD/KS aim to enhance prevention, facilitate rapid definitive diagnosis, avoid misdiagnosis, maintain active treatment, control infection and postpone the development of lesions. In male patients, sperm flagella may show impairment in or complete absence of the ability to swing, which ultimately results in male infertility. Assisted reproductive technology will certainly benefit such patients. For PCD/KS patients with completely immotile sperm, intracytoplasmic sperm injection may be very important and even indispensable. Considering the number of PCD/KS susceptibility genes and mutations that are being identified, more extensive genetic screening is indispensable in patients with these diseases. Moreover, further studies into the potential molecular mechanisms of these diseases are required. In this review, we summarize the available information on various aspects of this disease in order to delineate the therapeutic objectives more clearly, and clarify the efficacy of assisted reproductive technology as a means of treatment for patients with PCD/KS-associated infertility.

关键词： assisted reproductive technology clinical diagnosis and treatment genetic mechanism Kartagener＇s syndrome malefertifity, primary ciliary dyskinesia

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Insight into the development of electrolytes for aqueous zinc metal batteries from alkaline to neutral

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Chinese Chemical Letters 2024年第2期35卷 232-241页

作者： An Duan sha Luo wei Sun School of Materials and Energy University of Electronic Science and Technology of ChinaChengdu 611731China

Aqueous zinc metal batteries are considered as promising candidates for next-generation electrochemical energy storage devices,especially for large-scale energy storage,due to the advantages of high-safety,high energy density and low cost.As the bridge connecting cathode and anode,electrolyte provides a realistic operating environment.In alkaline and neutral aqueous zinc metal batteries,issues associated with electrolyte and anode are still intractable.In this review,we reveal the development and evolution of electrolytes for aqueous zinc metal batteries from alkaline to neutral via the description of fundamentals and challenges in terms of comparison and connection.We also elaborate the strategies in electrolytes regulation and highlight the basic roles and progresses in additives engineering.

关键词： Aqueous electrolytes Zinc metal batteries pH-dependent chemistry Electrolyte regulation Additives engineering

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An improved interval model updating method via adaptive Kriging models

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Applied Mathematics and Mechanics(English Edition) 2024年第3期45卷 497-514页

作者： sha wei Yifeng CHEN Hu DING Liqun CHEN shanghai Key Laboratory of Mechanics in Energy Engineering Shanghai Frontier Science Center of MechanoinformaticsShanghai Institute of Applied Mathematics and MechanicsSchool of Mechanics and Engineering ScienceShanghai UniversityShanghai 200072China shanghai Institute of Aircraft Mechanics and Control Shanghai 200092China

Interval model updating(IMU)methods have been widely used in uncertain model updating due to their low requirements for sample data.However,the surrogate model in IMU methods mostly adopts the one-time construction method.This makes the accuracy of the surrogate model highly dependent on the experience of users and affects the accuracy of IMU methods.Therefore,an improved IMU method via the adaptive Kriging models is proposed.This method transforms the objective function of the IMU problem into two deterministic global optimization problems about the upper bound and the interval diameter through universal grey numbers.These optimization problems are addressed through the adaptive Kriging models and the particle swarm optimization(PSO)method to quantify the uncertain parameters,and the IMU is accomplished.During the construction of these adaptive Kriging models,the sample space is gridded according to sensitivity information.Local sampling is then performed in key subspaces based on the maximum mean square error(MMSE)criterion.The interval division coefficient and random sampling coefficient are adaptively adjusted without human interference until the model meets accuracy requirements.The effectiveness of the proposed method is demonstrated by a numerical example of a three-degree-of-freedom mass-spring system and an experimental example of a butted cylindrical shell.The results show that the updated results of the interval model are in good agreement with the experimental results.

关键词： interval model updating(IMU) non-probabilistic uncertainty adaptive Kriging model surrogate model grey number

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