BMP15 and GDF9 Gene Mutations in Premature Ovarian Failure

Background: Premature ovarian failure (POF) is an ovarian defect characterized by the premature depletion of ovarian follicles before the age of 40, representing one major cause of female infertility. Mutations in bone morphogenetic protein 15 (BMP15) and growth differentiation factor 9 (GDF9) have been shown to be associated with POF. Methods: Genomic DNA was isolated from 52 idiopathic premature ovarian failure patients and 100 normal control individuals. Exons of BMP15 and GDF9 gene were amplified using PCR method and subjected to directed sequencing. Variants were identified by comparing the sequences obtained with normal sequences from NCBI database. Results: Four BMP15 gene variants were identified in 6 patients in heterozygous condition. Out of these 4 variants, 3 variants namely, c.165A>T (p.Glu55Asp), c.538 G>T (p.Aln180 Ser) and c. 510_512 delT were novel variants. In silico analysis using SIFT, Provean and Polyphen 2 score predicted the non-deleterious effect of c.165A>T and c.538 G>T variant. 788insTCT variant was identified in 3 patients. No variant was identified in GDF9 gene in any patients and controls. Conclusion: Although the variant has been identified in BMP15 gene but it may not be associated with the premature ovarian failure. Keywords: Bone morphogenetic protein 15, Female infertility, Gene mutation, Growth differentiation factor 9, Premature ovarian failure. To cite this article: Kumar R, Alwani M, Kosta S, Kaur R, Agarwal S. BMP15 and GDF9 Gene Mutations in Premature Ovarian Failure. J Reprod Infertil. 2016;18(1):185-189.