Genetic Underpinnings of Oligoasthenoteratozoospermia

IF 2.9 3区 医学 Q2 GENETICS & HEREDITY Clinical Genetics Pub Date : 2025-01-08 DOI:10.1111/cge.14652
Yanting Feng, Wensheng Liu, Junbo Dong, Fei Lu, Chunyan Wu, Qingting Shao, Aizhu Duan, Xinjie Yang, Ruipeng Sun, Yanwei Sha, Shihao Wu, Xiaoli Wei
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Abstract

Oligoasthenoteratozoospermia (OAT) is a frequent but severe type of male infertility. As one of the most multifaceted male infertility resulting from sperm problems, its genetic etiology remains unknown in most cases. In this review, we systematically sort out the latest literature on clinical reports and animal models leading to OAT, summarise the expression profiles of causative genes for OAT, and highlight the important role of the protein transport system during spermiogenesis, spermatid cell-specific genes, Golgi and acrosome-related genes, manchette-related genes, HTCA-related genes, and axoneme-related genes in OAT development. These causative genes would be instrumental in genetic etiological screening, genetic counseling, and pre-implantation genetic testing of patients with clinical OAT.

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少弱异性精子症的遗传基础。
少弱性异卵精子症(OAT)是一种常见但严重的男性不育症。由于精子问题导致的男性不育症是多方面的,其遗传病因在大多数情况下仍不清楚。本文系统梳理了导致OAT的临床报道和动物模型的最新文献,总结了OAT致病基因的表达谱,重点介绍了精子发生过程中蛋白质转运系统、精细胞特异性基因、高尔基体和顶体相关基因、manchette相关基因、htca相关基因和轴索体相关基因在OAT发生中的重要作用。这些致病基因将有助于临床OAT患者的遗传病因筛查、遗传咨询和植入前基因检测。
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来源期刊
Clinical Genetics
Clinical Genetics 医学-遗传学
CiteScore
6.50
自引率
0.00%
发文量
175
审稿时长
3-8 weeks
期刊介绍: Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease
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