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CLINICAL STUDY |
INSERM 709, Genomics and Epigenetics of Placentary Pathology, Hôpital Cochin, Pavillon Baudelocque, 123 Bd de Port Royal, 75014, Paris, France, 1 Reproductive Endocrine Unit, Hôpital Saint-Antoine, FacultéPierre et Marie Curie, UPRESS 1533, 75012 Paris, France, 2 Faculty of Medicine, Université Paris V, Necker Hospital, APHP, 149 rue de Sévres, 75743 Paris cedex 15, France, 3 Program of Developmental and Reproductive Biology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland, 4 Department of Clinical Genetics, Helsinki University Hospital, Helsinki, Finland, 5 Department of Gynaecology and Obstetrics, Hôpital Antoine Béclére, 92141, Clamart cedex, France, 6 Department of Endocrine Gynaecology and Reproductive Medicine, Hôpital Jeanne de Flandre, CHRU, 59037, Lille, France, and 7 Department of Gynaecology and Obstetrics, Reproductive Unit, Intercommunal Hospital, 94110 Creteil, France
(Correspondence should be addressed to R A Veitia; Email: veitia{at}cochin.inserm.fr)
Background and objective: 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).
Subject and methods: 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.
Results: 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.
Conclusions: We propose that although mutations in BMP15 and GDF9 are not a major cause of ovarian insufficiency, they may be involved in POF.
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