Mutational analysis of the FST gene in Chinese women with idiopathic premature ovarian failure

Objective 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 FST coding region are present in Chinese women with idiopathic premature ovarian failure (POF). Method 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 FST coding region was analyzed by direct sequencing in all subjects. Results Three FST 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. Conclusion 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 FST gene in Chinese women with idiopathic POF.