Journal article

STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermia

Sylvie Jaillard, Kenneth McElreavy, Gorjana Robevska, Linda Akloul, Farah Ghieh, Rajini Sreenivasan, Marion Beaumont, Anu Bashamboo, Joelle Bignon-Topalovic, Anne-Sophie Neyroud, Katrina Bell, Elisabeth Veron-Gastard, Erika Launay, Jocelyn van den Bergen, Benedicte Nouyou, Francois Vialard, Marc-Antoine Belaud-Rotureau, Katie L Ayers, Sylvie Odent, Celia 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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Grants

Awarded by Peter Doherty Early Career Fellowship


Awarded by National Health and Medical Research Council


Awarded by Australian National Health and Medical Research Council


Awarded by Agence Nationale de la Recherche (ANR)


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.).