Evidence map›Paper›PMID 41168699›Full record

ArticleBasic and clinical andrology2025

Compound heterozygous REC114 variants in dizygotic twins causes meiotic arrest and non-obstructive azoospermia.

Wanze Ni, Chenwang Zhang, Shuai Xu, Wenbo Li, Dewei Qian, Haowei Bai, Yifan Sun, Zizhou Meng, Na Li, Chencheng Yao and 3 more

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In one paragraph

Article in Basic and clinical andrology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1citing papers in PubMed
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1 · What the graph read from it

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3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

13 authors.

Wanze Ni *Department of Andrology, The Affiliated Taizhou People's Hospital of Nanjing Medical University, Taizhou School of Clinical Medicine, Nanjing Medical University, Taizhou, 225300, China.
Chenwang Zhang *State Key Laboratory of Reproductive Medicine and Offspring Health, Nanjing Medical University, Nanjing, 211166, China.
Shuai Xu *Department of Andrology, the Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200080, China.
Wenbo LiDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200080, China.
Dewei QianDepartment of Andrology, The Affiliated Taizhou People's Hospital of Nanjing Medical University, Taizhou School of Clinical Medicine, Nanjing Medical University, Taizhou, 225300, China.
Haowei BaiDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200080, China.
Yifan SunDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200080, China.
Zizhou MengDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200080, China.
Na LiDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200080, China.
Chencheng YaoDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200080, China.
Zheng LiDepartment of Andrology, The Affiliated Taizhou People's Hospital of Nanjing Medical University, Taizhou School of Clinical Medicine, Nanjing Medical University, Taizhou, 225300, China. lizhengboshi@sjtu.edu.cn.
Peng LiDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200080, China. lipengyxy@sjtu.edu.cn.
Yuxiang ZhangDepartment of Andrology, the Center for Men's Health, Urologic Medical Center, Shanghai Key Laboratory of Reproductive Medicine, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200080, China. zyx447255507@163.com.

Funding

National Key R&D Program of China 2022YFC2702701
6 · The paper itself

Abstract

backgroundMeiosis is essential for gametogenesis and the maintenance of fertility. Central to this process is meiotic recombination, a mechanism that ensures accurate chromosome segregation and drives genetic diversity. Non-obstructive azoospermia (NOA), a severe form of male infertility, often results from meiotic arrest. Although monogenic variants in genes critical for meiosis have been identified as a cause, the etiology of approximately 60–70% of NOA cases remains unresolved, highlighting a significant gap in our understanding of its genetic basis. CASE PRESENTATION: We utilized whole-exome sequencing (WES) to identify novel compound heterozygous variants in REC114 (c.523_524del: p.Lys175GlufsTer50 and c.640_641del: p.Leu214SerfsTer11) in a pair of Chinese dizygotic twin brothers with NOA. These variants are predicted to generate a truncated REC114 protein and disrupt its interaction with MEI4, which is essential for the formation of double-strand breaks (DSBs) during meiosis. Testicular histopathology and meiotic chromosome spread analyses indicated meiotic arrest at the zygotene stage, consistent with a DSB formation defect.

conclusionOur findings expand the spectrum of genetic factors contributing to NOA and suggest that the maintenance of DSB homeostasis is critical to the pathophysiology of meiotic arrest. This research offers new insights into the genetic basis of male infertility and holds potential for the development of improved genetic diagnostic tools.

Indexed as

Double-strand breakMale infertilityMeiosisNon-obstructive azoospermiaREC114 gene

Identifiers

PMID41168699
PMCPMC12577098

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