Analysis of FOXO3 mutation in 114 Chinese women with premature ovarian failure

Wang, Binbin; Mu, Yuan; Ni, Feng; Zhou, Sirui; Wang, Jing; Cao, Yunxia; Ma, Xu

doi:10.1016/j.rbmo.2010.01.008

« Previous Next »Reproductive BioMedicine Online
Volume 20, Issue 4 , Pages 499-503, April 2010

Analysis of FOXO3 mutation in 114 Chinese women with premature ovarian failure

Binbin Wang
- Graduate School, Peking Union Medical College, Beijing, PR China
- National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, Beijing 100081, PR China
- B.W. and Y.M. contributed equally to this work.
Yuan Mu
- Graduate School, Peking Union Medical College, Beijing, PR China
- National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, Beijing 100081, PR China
- B.W. and Y.M. contributed equally to this work.
Feng Ni
- Reproductive Medicine Center, The First Affiliated Hospital, Anhui Medical University, Hefei, PR China
Sirui Zhou
- Graduate School, Peking Union Medical College, Beijing, PR China
- National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, Beijing 100081, PR China
Jing Wang
- Graduate School, Peking Union Medical College, Beijing, PR China
- National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, Beijing 100081, PR China
Yunxia Cao
- Reproductive Medicine Center, The First Affiliated Hospital, Anhui Medical University, Hefei, PR China
- Corresponding authors.
Xu Ma
- Graduate School, Peking Union Medical College, Beijing, PR China
- National Research Institute for Family Planning, 12, Dahuisi Road, Haidian, Beijing 100081, PR China
- World Health Organization Collaborating Centre for Research in Human Reproduction, Beijing, PR China
- Corresponding authors.

Received 6 May 2009; received in revised form 23 June 2009; accepted 17 December 2009. published online 11 March 2010.

Declaration: The authors report no financial or commercial conflicts of interest.

Abstract

This study screened FOXO3 coding regions for mutations in a sample of 114 Chinese women with premature ovarian failure and discovered six novel single-nucleotide variants: c.71C>A (p.Pro24His), c.140C>T (p.Pro47Leu), c.184G>A (p.Asp62Asn), c.1652C>T (p.Ser551Phe), c.1697C>G (p.Gly566Ala) and c.1185G>A (silent). The nonsynonymous single-nucleotide variants, c.71C>A (p.Pro24His), c.140C>T (p.Pro47Leu), c.184G>A (p.Asp62Asn), c.1652C>T (p.Ser551Phe) and c.1697C>G (p.Gly566Ala), were not detected in any of 100 controls. These missense mutations might cause abnormal oocyte apoptosis and primordial follicle activation, thereby adversely affecting early follicle depletion in the ovary.

Keywords: female infertility, FOXO3, premature ovarian failure

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Professor Yunxia Cao obtained her MD degree in 1985, her MSc degree in 1988 and her PhD in 2000. In 1998, she established the Reproductive Medical Center in Anhui Province, China, and produced the first IVM baby and first baby derived from frozen-thawed oocytes in Anhui Province, China. Professor Yunxia Cao is a well-known infertility specialist in China, and she is a National Board Member for Reproductive Medicine. Her research interests include the mechanisms underlying polycystic ovary syndrome, fertility preservation for women and the simplification of IVF treatment.