Journal article
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia
S Jaillard, K McElreavy, G Robevska, L Akloul, F Ghieh, R Sreenivasan, M Beaumont, A Bashamboo, J Bignon-Topalovic, AS Neyroud, K Bell, E Veron-Gastard, E Launay, J van den Bergen, B Nouyou, F Vialard, MA Belaud-Rotureau, KL Ayers, S Odent, C Ravel Show all
Molecular Human Reproduction | OXFORD UNIV PRESS | Published : 2020
Abstract
Infertility, a global problem affecting up to 15% of couples, can have varied causes ranging from natural ageing to the pathological development or function of the reproductive organs. One form of female infertility is premature ovarian insufficiency (POI), affecting up to 1 in 100 women and characterised by amenorrhoea and elevated FSH before the age of 40. POI can have a genetic basis, with over 50 causative genes identified. Non-obstructive azoospermia (NOA), a form of male infertility characterised by the absence of sperm in semen, has an incidence of 1% and is similarly heterogeneous. The genetic basis of male and female infertility is poorly understood with the majority of cases having..
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Awarded by European Society for Paediatric Endocrinology
Funding Acknowledgements
This work was supported by CHU Rennes and Rennes 1 University, Faculty of Medicine in France, a Peter Doherty Early Career Fellowship (1054432; to E.J.T.), a National Health and Medical Research Council programme grant (1074258; to A.H.S.), a fellowship (1062854; to A.H.S.) from the Australian National Health and Medical Research Council, the Victorian Government's Operational Infrastructure Support Program, a research grant from the European Society of Pediatric Endocrinology (to A.B.), and the Agence Nationale de la Recherche (ANR), ANR-10-LABX-73 REVIVE and ANR-17-CE14-0038-01 (to K.M.).