Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure.

Research paper by Yingying Y Qin, Yuhua Y Shi, Yueran Y Zhao, Sandra Ann SA Carson, Joe Leigh JL Simpson, Zi-Jiang ZJ Chen

Indexed on: 22 Oct '08Published on: 22 Oct '08Published in: Fertility and Sterility®


The newborn ovary homeobox gene (NOBOX) is an oocyte-specific homeobox gene that plays a critical role in early folliculogenesis, thus representing an attractive candidate gene for nonsyndromic ovarian failure. We investigated whether perturbation in the homeodomain region of NOBOX was present in Chinese women with premature ovarian failure (POF). We sequenced 200 Chinese patients with POF, and discovered only two known single nucleotide polymorphisms: in intron 6 (c.1154+11 T>C and c.1155-22 G>A); neither offers plausible explanations for POF. Failing to find causative mutation contrasts with our previous study in a caucasian sample, in which we found plausible homeobox mutation in 1 of 96 POF cases. Mutations in the homeobox domain of NOBOX are not common explanations for POF in Chinese women.