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An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genes.

Clinical genetics - 1 Sept 2020

Alvarez-Mora Maria Isabel, Todeschini Anne-Laure, Caburet Sandrine, Perets Lilach Peled, Mila Montserrat, Younis Johnny S, Shalev Stavit, Veitia Reiner A

Abstract excerpt

Primary ovarian insufficiency (POI) implies the cessation of menstruation for several months in women before the age of 40 years and is a major cause of infertility. The study of the contribution of genetic factors to POI has been fueled by the use of whole exome sequencing (WES). Here, to uncover novel causative pathogenic variants and risk alleles, WES has been performed in 12 patients with familial POI (eight...

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PMID: 32613604
DOI: 10.1111/cge.13803

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