Mutational analysis of the FST gene in Chinese women with idiopathic premature ovarian failure. (August 2013)

• Record Type: Journal Article
• Authors: Liu, L.; Tan, R.; Liu, J.; Cui, Y.; Liu, J.; Wu, J.
• Is Part Of: Climacteric. Volume 16:Number 4(2013:Aug.)
• Page Start: 469
• Page End: 472
• Publication Date: 2013-08
• Subjects: Menopause -- Periodicals; Menopause -- Hormone therapy -- Periodicals; Menopause -- Periodicals; Estrogen Replacement Therapy -- Periodicals; Gynecology -- Periodicals; Societies, Medical -- Periodicals; 612.665
• DOI: 10.3109/13697137.2012.733982
• Languages: English
• ISSNs: 1369-7137

Abstract

<abstract> <title>Abstract</title> <p> <italic>Objective</italic> Recent animal studies have suggested that loss of follistatin (FST) may result in premature cessation of ovarian function. Our objective was to investigate whether mutations in the <italic>FST</italic> coding region are present in Chinese women with idiopathic premature ovarian failure (POF).</p> <p> <italic>Method</italic> The matched case-control study took place in the First Affiliated Hospital of Nanjing Medical University with 80 idiopathic POF patients and 80 matched controls. There were no interventions. The entire <italic>FST</italic> coding region was analyzed by direct sequencing in all subjects.</p> <p> <italic>Results</italic> Three <italic>FST</italic> gene variants were identified, namely c.270C> G, c.598G> C and c.953–184A> T (rs722910). The synonymous variant (c.270C> G) in exon 2 was present in the heterozygous state in a single POF patient. The novel c.598G> C missense mutation, located in exon 4 and resulting in an alanine to proline substitution at amino acid 200, was detected in a single healthy control. There was no difference in genotype distribution and allele frequency of the known single nucleotide polymorphism rs722910 between POF patients and controls.</p> <p> <italic>Conclusion</italic> Although we did not find any evidence that it is a disease-causing gene, our study is the first to evaluate the role of the <italic>FST</italic> gene in Chinese women with idiopathic POF.</p> </abstract>