Mutational analysis of human bone morphogenetic protein 15 in Chinese women with polycystic ovary syndrome

Polycystic ovary syndrome (PCOS) is one of the common defects that cause ovary dysfunction and link to the aberrant process of folliculogenesis. Bone morphogenetic protein 15 (BMP15) is expressed in human oocytes and functions importantly to regulate early follicle growth and fertility. Previous studies have discovered several mutations in the screening of BMP15 in premature ovarian failure but none in PCOS. In this current study, we focused on the mutational analysis of the coding region of BMP15 among 216 Chinese PCOS patients. Five novel missense mutations in BMP15 were discovered, namely, c.34C>G, c.109G>C, c.169C>G, c.288G>C, and c.598C>T. These results are the first to indicate that BMP15 gene mutations may be potentially associated with PCOS patients.