Journal article

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

Sylvie Jaillard, Katrina Bell, Linda Akloul, Kelly Walton, Kenneth McElreavy, William A Stocker, Marion Beaumont, Craig Harrisson, Tiina Jaaskelainen, Jorma J Palvimo, Gorjana Robevska, Erika Launay, Anne-Pascale Satie, Nurin Listyasari, Claude Bendavid, Rajini Sreenivasan, Solene Duros, Jocelyn van den Bergen, Catherine Henry, Mathilde Domin-Bernhard Show all

MATURITAS | ELSEVIER IRELAND LTD | Published : 2020

Abstract

Ovarian deficiency, including premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR), represents one of the main causes of female infertility. POI is a genetically heterogeneous condition but current understanding of its genetic basis is far from complete, with the cause remaining unknown in the majority of patients. The genes that regulate DOR have been reported but the genetic basis of DOR has not been explored in depth. Both conditions are likely to lie along a continuum of degrees of decrease in ovarian reserve. We performed genomic analysis via whole exome sequencing (WES) followed by in silico analyses and functional experiments to investigate the genetic cause of o..

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Grants

Awarded by CHU Rennes and Rennes 1 University, Faculty of Medicine in France


Awarded by National Health and Medical Research Council from the Australian National Health and Medical Research Council


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 program grant (1074258; to A.H.S.), a fellowship (1062854; to A.H.S.) from the Australian National Health and Medical Research Council, the Sigrid Juselius Foundation (JJP), and the Victorian Government's Operational Infrastructure Support Program. WAS was supported by an Australian Government Research Training Program Stipend scholarship.