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Variants in homologous recombination genes EXO1 and RAD51 related with premature ovarian insufficiency

Journal of Clinical Endocrinology and Metabolism Aug 13, 2020

Luo W, Guo T, Li G, et al. - In the present study, the researchers sought to examine the role of variations in homologous recombination genes played in premature ovarian insufficiency (POI), characterized by cessation of menstruation before 40 years of age and elevated serum level of follicle-stimulating hormone (> 25IU/L), pathogenesis. The whole exome sequencing was carried out in 50 POI patients with primary amenorrhea. Eight missense variants were identified in 7 homologous recombination (HR) genes, including EXO1, RAD51, RMI1, MSH5, MSH2, MSH6, and MLH1. The study firstly linked EXO1 and RAD51 variants with POI and further highlighted the role of DNA repair genes in ovarian dysgenesis.

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