Evidence map›Paper›PMID 40376536›Full record

ArticleTranslational andrology and urology2025

Establishment and clinical significance of genetic factor screening method for patients with nonobstructive azoospermia based on whole exon sequencing technology.

Wenliang Yao, Jingwen Fu, Duanjun Zhang, Shenghui Chen, Yuliang Zhou, Xianglong Jiang, Xiaoting Zheng, Mingliang Zhang, Feihua Wu

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Article in Translational andrology and urology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

9 authors.

Wenliang YaoJiangxi University of Chinese Medicine, Nanchang, China.
Jingwen FuJiangxi University of Chinese Medicine, Nanchang, China.
Duanjun ZhangDepartment of Andrology, The Affiliated Reproductive Hospital of Jiangxi University of Chinese Medicine, Nanchang, China.
Shenghui ChenJiangxi University of Chinese Medicine, Nanchang, China.
Yuliang ZhouJiangxi University of Chinese Medicine, Nanchang, China.
Xianglong JiangDepartment of Andrology, The Affiliated Reproductive Hospital of Jiangxi University of Chinese Medicine, Nanchang, China.
Xiaoting ZhengDepartment of Andrology, The Affiliated Reproductive Hospital of Jiangxi University of Chinese Medicine, Nanchang, China.
Mingliang ZhangDepartment of Andrology, The Affiliated Reproductive Hospital of Jiangxi University of Chinese Medicine, Nanchang, China.
Feihua WuJiangxi University of Chinese Medicine, Nanchang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Non-obstructive azoospermia (NOA) is a severe form of male infertility, affecting 10-20% of azoospermic men. Although some NOA genes have been identified, the genetic causes of spermatogenesis failure in NOA remain unclear. This study aimed to identify and characterize genes and mutations associated with NOA. Methods: Thirty NOA patients were selected for whole-exome sequencing (WES). Patients with chromosomal abnormalities, chromosome copy number issues, or Y chromosome microdeletions were excluded. Relevant genes and mutations in NOA patients were comprehensively screened using WES, MutationTaster software, and related databases. Sequencing results were analyzed for allele screening, mutation deleteriousness, and mutation site prediction to identify potential NOA-associated genes. The study also predicted altered gene function due to mutations and assessed pathogenicity from DNA sequence alterations. Results: The study screened 37 genes with 56 variant loci, identifying 27 genes with 34 variant loci related to NOA, including Conclusions: The study identified genes related to spermatogenic disorders in azoospermia, providing a reference for clinical genetic diagnosis and basic NOA research.

Indexed as

genemutationNon-obstructive azoospermia (NOA)whole-exome sequencing (WES)

Identifiers

PMID40376536
PMCPMC12076239

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