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Article

Genetic and functional analysis reveals novel mutations in meiotic genes underlying non-obstructive azoospermia.

Journal of assisted reproduction and genetics - 1 Jul 2025

Liu Ying, Li Jingping, Li Lejun, Zhou Yuanyuan, Wang Yankun, Han Yanhua, Fei Jia, Jin Fan

Abstract excerpt

PURPOSE: To identify novel pathogenic mutations in meiotic genes underlying non-obstructive azoospermia (NOA) through whole-exome sequencing analysis. MATERIALS AND METHODS: Whole-exome sequencing was performed on 31 NOA patients. Novel variants were identified through bioinformatic analysis and validated by Sanger sequencing. The pathogenicity of variants was assessed through functional studies including protein...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 40442410
DOI: 10.1007/s10815-025-03505-6
PMCID: PMC12356802

Genes

DMRT1
MSH5
REC114

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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