Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure

European Journal of Endocrinology
Paul LaissueReiner A Veitia

Abstract

Mutations in bone morphogenic protein 15 (BMP15) and growth/differentiation factor 9 (GDF9) lead to altered fertility in animal models. In the human, a heterozygous point mutation of BMP15 has been associated with premature ovarian failure (POF). We have directly sequenced both genes in a cohort of 203 POF patients presenting with primary or secondary amenorrhea and high FSH levels and in a control population including 54 women with regular menstrual cycles who had at least one child. We have identified several heterozygous variants. One alteration in GDF9 (S186Y) and one in BMP15 (L148P) may have pathogenic effects as both positions are conserved in vertebrate species, ranging from the chicken to mammals. These variants were absent in the control samples. We also found synonymous and neutral substitutions. We propose that although mutations in BMP15 and GDF9 are not a major cause of ovarian insufficiency, they may be involved in POF.

Citations

Oct 28, 2010·Journal of Inherited Metabolic Disease·Judith L Fridovich-KeilEstela Rubio-Gozalbo
Sep 22, 2010·Journal of Molecular Histology·R Z SunZ H Liu
Jul 28, 2011·Zygote : the Biology of Gametes and Early Embryos·Ma Ninia L GomezByeong Chun Lee
Feb 6, 2013·Proceedings of the National Academy of Sciences of the United States of America·Jia PengMartin M Matzuk
Jun 26, 2009·The Journal of Biological Chemistry·Elisa Di Pasquale, Ali H Brivanlou
Jan 9, 2009·Human Molecular Genetics·Mika Asai-CoakwellOrdan J Lehmann
Apr 14, 2009·Human Reproduction·Tanguy CorreUNKNOWN Italian Network for the study of Ovarian Dysfunctions
Sep 16, 2009·Human Reproduction Update·A L ChandA N Shelling
Sep 8, 2011·Human Reproduction Update·UNKNOWN Evian Annual Reproduction (EVAR) Workshop Group 2010C M Howles
Jul 8, 2009·Molecular Human Reproduction·Binbin WangYunxia Cao
Sep 25, 2009·Endocrine Reviews·Mark A EdsonMartin M Matzuk
Oct 31, 2009·Endocrine Journal·Fumio Otsuka
May 15, 2009·Reproduction : the Official Journal of the Society for the Study of Fertility·Jennifer L JuengelKenneth P McNatty
Nov 23, 2011·Reproduction : the Official Journal of the Society for the Study of Fertility·C Joy McIntoshKenneth P McNatty
Oct 2, 2009·Journal of Endocrinological Investigation·B Meczekalski
Dec 17, 2009·Reproduction : the Official Journal of the Society for the Study of Fertility·Samu MyllymaaMika P E Laitinen
Jun 27, 2013·Reproduction : the Official Journal of the Society for the Study of Fertility·Jennifer L JuengelKenneth P McNatty
Aug 19, 2010·Reproduction : the Official Journal of the Society for the Study of Fertility·Andrew N Shelling
Jan 2, 2008·European Journal of Endocrinology·Béatrice Mandon-PépinMarc Fellous
Jul 16, 2010·Reproduction : the Official Journal of the Society for the Study of Fertility·J M Young, A S McNeilly
Feb 8, 2011·Journal of Endocrinological Investigation·L PersaniS Fabre
Feb 5, 2014·Human Molecular Genetics·Christina T L ChenAleksandar Rajkovic
Apr 10, 2007·Fertility and Sterility·Yingying QinAleksandar Rajkovic
Dec 3, 2014·European Journal of Obstetrics, Gynecology, and Reproductive Biology·D PuJ Wu
May 8, 2007·Fertility and Sterility·Han ZhaoAleksandar Rajkovic
Dec 3, 2014·European Journal of Obstetrics, Gynecology, and Reproductive Biology·B B GeckinliB Devranoglu
Jun 18, 2010·Canadian Journal of Physiology and Pharmacology·Gerald M Kidder, Barbara C Vanderhyden
Oct 9, 2013·Seminars in Reproductive Medicine·Michelle A Wood, Aleksandar Rajkovic
Jul 27, 2010·Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology·Paolo Giovanni ArtiniAndrea Riccardo Genazzani
Feb 18, 2012·Climacteric : the Journal of the International Menopause Society·N MendozaT Martínez Astorquiza
May 15, 2013·Reproductive Biomedicine Online·Zhiyi ZhaoZi-Jiang Chen
Oct 31, 2012·Maturitas·Eleonora FerrariniMassimo Tonacchera

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