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

ABSTRACT:

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 id

SUBMITTER: Jiao X 

PROVIDER: S-EPMC3779243 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature