New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencing

•Our study has provided new insights or strengthened recent claims about the etiology of premature ovarian insufficiency.•Genomic sequencing reveals novel causative variants in STAG3, GDF9, FANCM, and FSHR, and new candidate genes, NRIP1, XPO1, and MACF1.•We validate that GDF9 and FANCM are responsi...

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Veröffentlicht in:	Maturitas 2020-11, Vol.141, p.9-19
Hauptverfasser:	Jaillard, Sylvie, Bell, Katrina, Akloul, Linda, Walton, Kelly, McElreavy, Kenneth, Stocker, William A., Beaumont, Marion, Harrisson, Craig, Jääskeläinen, Tiina, Palvimo, Jorma J., Robevska, Gorjana, Launay, Erika, Satié, Anne-Pascale, Listyasari, Nurin, Bendavid, Claude, Sreenivasan, Rajini, Duros, Solène, van den Bergen, Jocelyn, Henry, Catherine, Domin-Bernhard, Mathilde, Cornevin, Laurence, Dejucq-Rainsford, Nathalie, Belaud-Rotureau, Marc-Antoine, Odent, Sylvie, Ayers, Katie L., Ravel, Célia, Tucker, Elena J., Sinclair, Andrew H.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Cell Cycle Proteins - genetics DNA Helicases - genetics Exome Sequencing Exportin 1 Protein Female Female infertility Genetics Genomics Growth Differentiation Factor 9 - genetics Humans Infertility, Female Karyopherins - genetics Life Sciences Menopause, Premature - genetics Microfilament Proteins - genetics Nuclear Receptor Interacting Protein 1 - genetics Ovarian Diseases Ovarian Reserve - genetics Premature ovarian insufficiency Primary Ovarian Insufficiency - genetics Receptors, Cytoplasmic and Nuclear - genetics Young Adult
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