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Background  The etiology of most premature ovarian failure (POF) cases is usually elusive. Although genetic causes clearly exist and a likely susceptible region of 8q22.3 has been discovered, no predominant explanation exists for POF. More recently, evidences have indicated that mutations in  NR5A1  gene could be causative for POF. We therefore screened for mutations in the  NR5A1  gene in a large cohort of Chinese women with non-syndromic POF.    Methods  Mutation screening of  NR5A1  gene was performed in 400 Han Chinese women with well-defined 46,XX idiopathic non-syndromic POF and 400 controls. Subsequently, functional characterization of the novel mutation identified was evaluated in vitro.    Results  A novel heterozygous missense mutation [c.13T>G (p.Tyr5Asp)] in  NR5A1  was identified in 1 of 384 patients (0.26%). This mutation impaired transcriptional activation on  Amh ,  Inhibin-a ,  Cyp11a1  and  Cyp19a1  gene, as shown by transactivation assays. However, no dominant negative effect was observed, nor was there impact on protein expression and nuclear localization.    Conclusions  This novel mutation p.Tyr5Asp, in a novel non-domain region, is presumed to result in haploinsufficiency. Irrespectively, perturbation in  NR5A1  is not a common explanation for POF in Chinese.

Novel NR5A1 Missense Mutation in Premature Ovarian Failure: Detection in Han Chinese Indicates Causation in Different Ethnic Groups