Pénélope Jordan, Camille Verebi, Bérénice Hervé, Sandrine Perol, Zeina Chakhtoura, Carine Courtillot, Anne Bachelot, Daphné Karila, Céline Renard, Virginie Grouthier, Stanislas Mulot de la Croix, Valérie Bernard, Corinne Fouveaut, Aude Brac de la Perrière, Sophie Jonard-Catteau, Philippe Touraine, Geneviève Plu-Bureau, Jean Michel Dupont, Sophie Christin-Maitre, Thierry Bienvenu
Pathogenic germline variants in the FOXL2 gene are associated with Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) in humans, an autosomal dominant condition. Two forms of BPES have emerged: (i) type I (BPES-I), characterized by ocular signs and primary ovarian failure (POI), and (ii) type II (BPES-II) with no systemic associations. This study aimed to compare the distribution of FOXL2 variants in idiopathic POI/DOR (diminished ovarian reserve) and both types of BPES, and to determine the involvement of FOXL2 in non-syndromic forms of POI/DOR...
April 1, 2024: Clinical Genetics