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Article

Mutation in MSH5 Causes Primary Ovarian Insufficiency and Successful Therapeutic Intervention by In Vitro Fertilisation.

Journal of cellular and molecular medicine - 1 May 2026

Mao Bin, Zhang Lili, Zhao Xiaodong, Xu Xiaojuan, Liu Hongfang, Song Dexiao, Li Peiqiang, Banerjee Santasree, Ma Xiaoling, Yang Yongxiu

Abstract excerpt

Primary ovarian insufficiency (POI) is a genetically heterogeneous disorder characterised by cessation of menstruation before the age of 40 years with elevated levels of follicle-stimulating hormone. Germline variants in the MSH5 gene cause POI. In this study, we investigated a Han Chinese family with POI. The proband and her two younger sisters are clinically diagnosed with POI. The proband's parents are...

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Identifiers

PMID: 42104542
DOI: 10.1111/jcmm.70745
PMCID: PMC13156242

Genes

MSH5

Provenance

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

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