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Article

MCM8 variants in two patients with primary ovarian insufficiency: clinical findings and in vitro defective DNA repair revealed by an MCM8 double-mutant construct.

Frontiers in endocrinology - 1 Jan 2026

Wang Fei, Zang Shaolian, Li Pin, Yin Xiaoqin

Abstract excerpt

Backgrounds: Pediatric-onset primary ovarian insufficiency (POI) presents distinct clinical challenges, including delayed puberty or growth retardation. Previously, we reported a Chinese family with POI harboring compound heterozygous variants (p.C242R and p.S445*) in MCM8 gene, a critical factor for DNA repair and gonadal homeostasis. Objective: This study describes clinical findings of pediatric-onset POI...

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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: 42388858
DOI: 10.3389/fendo.2026.1807887
PMCID: PMC13318747

Genes

MCM8
DMC1
H2AX
MCM6
RAD51

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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