Article
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization.
European journal of human genetics : EJHG - 1 Aug 2025
Engel Camille, Rendek Michaela, Assoumani Jessica, Argilli Emanuela, Ariani Francesca, Avice-Denizet Anne-Laude, Bijlsma Emilia K, Blanc Pierre, Bruno Lucia Pia, Callewaert Bert, Capra Valeria, Carullo Michele, Chesneau Bertrand, Coppens Sandra, Curry Cynthia, Dale Breanne, Dahlen Eric, Delahaye-Duriez Andrée, Denommé-Pichon Anne-Sophie, Demeer Bénédicte, Dvořáková Lenka, Fischer Jan, Geneviève David, Giacomini Thea, Handrup Mette M, Heron Delphine, Hüning Irina, Iacomino Michelle, Isidor Bertrand, Keren Boris, Kmoch Stanislav, Koolen David A, Kübler Andrea, Laštůvková Jana, Le Carolyn, Levy Jonathan, Rizzo Caterina Lo, Maitz Silvia, Marlin Sandrine, Mignot Cyril, Mirzaa Ghayda, Nagel Inga, Neuens Sebastian, Nosková Lenka, Pao Emily, Pecková Anna, Plaisancie Julie, Porrmann Joseph, Privitera Flavia, Reis André, Renieri Alessandra, Rio Marlène, Rippert Alyssa, Ryba Lukáš, Scala Marcello, Schieving Jolanda H, Sherr Elliott H, Shuen Andrew, Sidlow Richard, Smol Thomas, Soblet Julie, Striano Pasquale, Suri Mohnish, Syryn Hannes, Tran Mau-Them Frédéric, Travessa Andre M, Van Gils Julien, Vasileiou Georgia, Verseput Jolijn J A, Vilain Catheline, Vincent-Delorme Catherine, Vyhnálková Emílie, Wakeling Emma L, Zacher Pia, Zara Federico, Kuentz Paul, Piard Juliette
Abstract excerpt
The CCR4-NOT complex, crucial in gene expression regulation, includes CNOT3, a subunit linked to neurodevelopmental disorders when mutated. This study investigates 51 patients from 42 families with heterozygous CNOT3 variants, aiming to expand the understanding of CNOT3-related neurodevelopmental disorders and explore genotype-phenotype correlations. Patients originated from various countries, reflecting the...
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