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Premature ovarian failure (POF) is a heterogeneous disease. Though dozens of candidate genes have been identified for the genetic etiology of POF, it is largely unexplained in majority of patients. Recently,  Wt1   +/R394W   mice was found to present POF-like phenotype, which indicates that  WT1  might be a plausible candidate gene for non-syndromic POF. The coding region of  WT1  gene was screened in 384 patients with POF and 6 novel variations were identified, including two missense mutations (p. Pro126Ser in exon1 and p. Arg370His in exon7) and four intronic variants (c.647-27C > T, c.647-13G > C, c.647-13G > A in intron1 and c.950 + 14T > C in intron 4).  In vitro  experiments showed that both mutant p. Pro126Ser and p. Arg370His repressed the expression of  Amh  and  Cdh1 , and induced the expression of  Fshr  and  Cyp19  in mRNA level ( P  < 0.05). The expression changes of AMH, FSHR, CYP19 and CDH1 were confirmed by western blot. These genes ( AMH ,  FSHR ,  CYP19  and  CDH1 ) are required for granular cells (GCs) proliferation, differentiation and oocyte-GCs interaction. The novel mutant p. P126S and p. R370H in the  WT1  gene potentially impaired  GCs  differentiation and oocyte-GCs interaction, which might result in loss of follicles prematurely. Therefore,  WT1  is a plausible causal gene for POF.

Novel WT1 Missense Mutations in Han Chinese Women with Premature Ovarian Failure