Genetic Underpinnings of Oligoasthenoteratozoospermia

Yanting Feng; Wensheng Liu; Junbo Dong; Fei Lu; Chunyan Wu; Qingting Shao; Aizhu Duan; Xinjie Yang; Ruipeng Sun; Yanwei Sha; Shihao Wu; Xiaoli Wei

doi:10.1111/cge.14652

Genetic Underpinnings of Oligoasthenoteratozoospermia

Clin Genet. 2025 Jan 8. doi: 10.1111/cge.14652. Online ahead of print.

Authors

Yanting Feng¹, Wensheng Liu^{2

3}, Junbo Dong¹, Fei Lu¹, Chunyan Wu¹, Qingting Shao¹, Aizhu Duan¹, Xinjie Yang¹, Ruipeng Sun¹, Yanwei Sha^{4

5

6}, Shihao Wu¹, Xiaoli Wei¹

Affiliations

¹ School of Medicine, Yunnan University, Kunming, Yunnan, China.
² Department of Reproductive Medicine, NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, First People's Hospital of Yunnan Province, Kunming, China.
³ The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China.
⁴ Department of Andrology, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian, China.
⁵ Fujian Provincial Key Laboratory of Reproductive Health Research, School of Medicine, Xiamen University, Xiamen, Fujian, China.
⁶ State Key Laboratory of Molecular Vaccinology and Molecular Diagnostics, School of Public Health, Xiamen University, Xiamen, Fujian, China.

PMID: 39780539
DOI: 10.1111/cge.14652

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.

Keywords: causative genes; genetic screening; male infertility; oligoasthenoteratozoospermia; preimplantation genetic testing.

Publication types

Review

Abstract

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