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Am J Hum Genet. 2008 Jun;82(6):1342-8. doi: 10.1016/j.ajhg.2008.04.018. Epub 2008 May 22.

Transcription factor FIGLA is mutated in patients with premature ovarian failure.

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  • 1Department of Obstetrics and Gynecology, Baylor College of Medicine, Houston, TX 77030, USA.

Abstract

Premature Ovarian Failure (POF) is a genetically heterogenous disorder that leads to hypergonadotropic ovarian failure and infertility. We screened 100 Chinese women with POF for mutations in the oocyte-specific gene FIGLA and identified three variants in four women: missense mutation c.11C --> A (p.A4E) was found in two women; deletion c. 15-36 del (p.G6fsX66), resulting in a frameshift that leads to haploinsufficiency, was found in one woman; and deletion c.419-421 delACA (p.140 delN) was found in one. Functional analyses by the yeast two-hybrid assay demonstrated that the p.140 delN mutation disrupted FIGLA binding to the TCF3 helix-loop-helix (HLH) domain. Our findings show that a subset of Chinese women with sporadic, premature ovarian failure harbor mutations in FIGLA.

PMID:
18499083
[PubMed - indexed for MEDLINE]
PMCID:
PMC2427265
Free PMC Article

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