Article
First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Clinical genetics - 1 May 2022
Chesneau Bertrand, Aubert-Mucca Marion, Fremont Félix, Pechmeja Jacmine, Soler Vincent, Isidor Bertrand, Nizon Mathilde, Dollfus Hélène, Kaplan Josseline, Fares-Taie Lucas, Rozet Jean-Michel, Busa Tiffany, Lacombe Didier, Naudion Sophie, Amiel Jeanne, Rio Marlène, Attie-Bitach Tania, Lesage Cécile, Thouvenin Dominique, Odent Sylvie, Morel Godelieve, Vincent-Delorme Catherine, Boute Odile, Vanlerberghe Clémence, Dieux Anne, Boussion Simon, Faivre Laurence, Pinson Lucile, Laffargue Fanny, Le Guyader Gwenaël, Le Meur Guylène, Prieur Fabienne, Lambert Victor, Laudier Beatrice, Cottereau Edouard, Ayuso Carmen, Corton-Pérez Marta, Bouneau Laurence, Le Caignec Cédric, Gaston Véronique, Jeanton-Scaramouche Claire, Dupin-Deguine Delphine, Calvas Patrick, Chassaing Nicolas, Plaisancié Julie
Abstract excerpt
Peters' anomaly (PA) is a rare anterior segment dysgenesis characterized by central corneal opacity and irido-lenticulo-corneal adhesions. Several genes are involved in syndromic or isolated PA (B3GLCT, PAX6, PITX3, FOXE3, CYP1B1). Some copy number variations (CNVs) have also been occasionally reported. Despite this genetic heterogeneity, most of patients remain without genetic diagnosis. We retrieved a cohort of...
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