Abstract
BackgroundThe WNT4 gene plays an important role in female sex determination and differentiation. It also contributes to maintaining of the ovaries and the survival of follicles.MethodsWe sequenced the coding region and splice sites of WNT4 in 145 Han Chinese women with premature ovarian failure (POF) and 200 healthy controls.ResultsOnly one novel variation, in Exon 2 (195C > T), was detected among the women with POF. However, this synonymous variation did not result in a change in amino acid sequence (65 Asp > Asp). No further variants were found in any of the samples.ConclusionAlthough we cannot provide any evidence that it is a possible disease-causing gene, this study is the first attempt to investigate the possible role of WNT4 in Han Chinese women with POF.
Highlights
The WNT4 gene plays an important role in female sex determination and differentiation
One novel variation was detected among the 145 patients with premature ovarian failure (POF)
This synonymous variation in Exon 2 (195C > T), which was not identified in the control population, did not result in a change in amino acid sequence (65 Asp > Asp)
Summary
Premature ovarian failure (POF) is a rare disease that severely affects the reproductive health and endocrine balance of 1% of all women [1]. It is characterized by abnormal follicular genesis, development or apoptosis. Many studies have demonstrated that this gene plays an important role in mammalian female sexual differentiation. It is downregulated in the testis and upregulated in the ovary at 11.5 days post-coitum in the mouse by activating Frizzled-4, expressed on luteal cell membranes to activate distinct signaling cascades [5]. We carried out mutational screening of the WNT4 gene in Han Chinese women with POF
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