Recent advances in the study of genes involved in non-syndromic premature ovarian failure.
Premature ovarian failure (POF) is a common pathology leading to infertility affecting about 1% of women under 40 years old. In POF patients, the ovarian dysfunction is characterized by the lack of the ovarian response to close a negative feedback loop on the synthesis of pituitary gonadotropins. Although the majority of cases are considered as idiopathic, diverse aetiologies have been associated, including genetic factors. Up to now, the potential genetic causes of non-syndromic POF have been established mainly by genetic linkage analysis of familial cases or by the screening of mutations in candidate genes based on animal models. Here, we review recent advances in the study of candidate genes.
Laissue
Paul
P
Institut Cochin, Université Paris Descartes, CNRS (UMR 8104), Paris, France; Inserm, U567 Paris, France.
Vinci
Giovanna
G
Veitia
Reiner A
RA
Fellous
Marc
M
D055430:Bone Morphogenetic Protein 15; D005260:Female; D051858:Forkhead Transcription Factors / Q000235:genetics; D055429:Growth Differentiation Factor 9; D006801:Humans; D007265:Inhibins / Q000235:genetics; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D016212:Transforming Growth Factor beta / Q000235:genetics
C525901:BMP15 protein, human; D055430:Bone Morphogenetic Protein 15; D051858:Forkhead Transcription Factors; C525897:GDF9 protein, human; D055429:Growth Differentiation Factor 9; D036341:Intercellular Signaling Peptides and Proteins; D016212:Transforming Growth Factor beta; C094377:inhibin-alpha subunit; D007265:Inhibins