Article
Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Human genetics - 1 Jan 2021
Celse Tristan, Cazin Caroline, Mietton Flore, Martinez Guillaume, Martinez Delphine, Thierry-Mieg Nicolas, Septier Amandine, Guillemain Catherine, Beurois Julie, Clergeau Antoine, Mustapha Selima Fourati Ben, Kharouf Mahmoud, Zoghmar Abdelali, Chargui Ahmed, Papaxanthos Aline, Dorphin Béatrice, Foliguet Bernard, Triki Chema, Sifer Christophe, Lauton Dominique, Tachdjian Gérard, Schuler Gilles, Lejeune Hervé, Puechberty Jacques, Bessonnat Julien, Pasquier Laurent, Mery Lionel, Poulain Marine, Chaabouni Myriam, Sermondade Nathalie, Cabry Rosalie, Benbouhadja Sebti, Veau Ségolène, Frapsauce Cynthia, Mitchell Valérie, Achard Vincent, Satre Veronique, Hennebicq Sylviane, Zouari Raoudha, Arnoult Christophe, Kherraf Zine-Eddine, Coutton Charles, Ray Pierre F
Abstract excerpt
Globozoospermia is a rare phenotype of primary male infertility inducing the production of round-headed spermatozoa without acrosome. Anomalies of DPY19L2 account for 50-70% of all cases and the entire deletion of the gene is by far the most frequent defect identified. Here, we present a large cohort of 69 patients with 20-100% of globozoospermia. Genetic analyses including multiplex ligation-dependent probe...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.