METHODOLOGY Open Access Mutation analysis of the WNT4 gene in Han Chinese women with premature ovarian failure

Background: The 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. Methods: We sequenced the coding region and splice sites of WNT4 in 145 Han Chinese women with premature ovarian failure (POF) and 200 healthy controls. Results: Only 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. Conclusion: Although 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. Background 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. POF presents clinically as primary amenorrhea in women with abnormal prepubertal onset, or as spontaneous secondary amenorrhea in women with premature depletion of ovarian follicles/arrested folliculogenisis. The etiological factors and pathogenesis of POF are extremely heterogeneous. As a severe complication in patients after treatments for ovarian neoplasms or autoimmune diseases, the damage caused by iatrogenic factors (surgery, chemotherapy, radiations) accounts for many cases. However, the causes are still unclear in most cases of POF (especially idiopathic form). Genetic factors are known to provide a significant etiological component in recent studies. Apart from studying X chromosome deletions and X/autosome translocations in patients, research has focused increasingly on some