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

ABSTRACT: 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?

SUBMITTER: Wang H

PROVIDER: S-EPMC4566091 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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

Wang Huidan H Li Guangyu G Zhang Jun J Gao Fei F Li Weiping W Qin Yingying Y Chen Zi-Jiang ZJ

Scientific reports 20150911

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. Pro1 ...[more]

PMID: 26358501

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Novel NR5A1 missense mutation in premature ovarian failure: detection in han chinese indicates causation in different ethnic groups.

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