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Article

Association of FOXL2 and ERCC6 variants with premature ovarian insufficiency and their potential use in clinical IVF guidance.

Gene - 15 Jan 2025

Gu Meng, Fang Jiajun, Shao Zhongmei, Yu Hui, Guo Senchao, Gao Yang, He Xiaojin, Xu Yuping, Lv Mingrong

Abstract excerpt

Premature ovarian insufficiency (POI) is the main cause of infertility in women. Some cases of POI are thought to be caused by genetic defects and the clinical outcomes of these patients are unknown. Here, we performed whole-exome sequencing of the peripheral blood of a cohort of 55 subjects with POI and identified one heterozygous missense variant in FOXL2 (c.1045G>C; p.Arg349Gly) and two heterozygous missense...

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Identifiers

PMID: 39277148
DOI: 10.1016/j.gene.2024.148946

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