New candidate gene POU5F1 associated with premature ovarian failure in Chinese patients

Premature ovarian failure (POF) is defined as a cessation of ovarian function in women before the age of 40 years. POU5F1 has a critical role in regulating pluripotency in embryonic development and POU5F1 transcription factor is down-regulated more than 30-fold in the POF candidate gene Nobox knockout ovaries. In order to identify the potential correlation between POU5F1 and the development of POF, the exon regions of POU5F1 were amplified and sequenced in 115 POF patients and 149 healthy controls. One non-synonymous variant of POU5F1 (c. C37A, p. Pro13Thr) was identified and confirmed in one of the POF patients. The substitution replacing a hydrophobic amino acid, proline, with a hydrophilic amino acid, threonine. As far as is known, the present study is the first to identify a potential association between POU5F1 and the development of POF.It has been estimated that up to 30% of POF (premature ovarian failure) cases may result from genetic causes. Until now, some mutations associated with POF have been located in autosomal genes. The present study explored the potential role of POU5F1 in POF development. The primary finding of the present study is a potential pathogenic mutation of POU5F1 in 115 Chinese POF women. A substitution was located at the 13th amino acid, replacing a hydrophobic amino acid, proline, with a hydrophilic amino acid, threonine. The present study firstly identified a non-synonymous variation in POU5F1 in a Chinese POF patient.