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Article

Maternal MLH3 dysfunction drives unexplained recurrent pregnancy loss via impaired oocyte maturation and defective decidualization.

Cellular and molecular life sciences : CMLS - 18 Apr 2026

Wu Yaoqiu, Liang Ting, Liu Yajing, Zhu Liqiong, Mo Hanjie, Chen Xiran, Huang Xuezhe, Li Hui, Zhu Menglan, Zhang Qingxue, Chen Hui, Cao Chunwei

Abstract excerpt

Unexplained recurrent pregnancy loss (URPL) represents a prevalent obstetric complication and remains a challenging condition with poorly understood genetic etiology. Through whole-exome sequencing of 94 URPL patients, we identified enriched MLH3 gene mutations in five individuals (p.G1302Efs21/p.G752E, p.V741F/p.S845G, p.V1220M/p.L1339F, p.T942I/p.G1163D, p.I988M/p.A1426V), with a 5.32% mutation frequency in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42000973
DOI: 10.1007/s00018-026-06207-z
PMCID: PMC13375988

Genes

MLH3

Variants

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