De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

• Published in: American journal of human genetics Vol. 105; no. 4; p. 854
• Main Authors: Accogli, Andrea, Calabretta, Sara, St-Onge, Judith, Boudrahem-Addour, Nassima, Dionne-Laporte, Alexandre, Joset, Pascal, Azzarello-Burri, Silvia, Rauch, Anita, Krier, Joel, Fieg, Elizabeth, Pallais, Juan C, McConkie-Rosell, Allyn, McDonald, Marie, Freedman, Sharon F, Rivière, Jean-Baptiste, Lafond-Lapalme, Joël, Simpson, Brittany N, Hopkin, Robert J, Trimouille, Aurélien, Van-Gils, Julien, Begtrup, Amber, McWalter, Kirsty, Delphine, Heron, Keren, Boris, Genevieve, David, Argilli, Emanuela, Sherr, Elliott H, Severino, Mariasavina, Rouleau, Guy A, Yam, Patricia T, Charron, Frédéric, Srour, Myriam
• Format: Journal Article
• Language: English
• Published: United States 03.10.2019
• Subjects: Axons - pathology; Cadherins - genetics; Corpus Callosum - pathology; Eye - pathology; Frameshift Mutation; Genitalia - pathology; Heart Defects, Congenital - genetics; Heterozygote; Humans; Neurodevelopmental Disorders - genetics; Neurodevelopmental Disorders - pathology; cell-cell adhesion; ACOG; CDH2; N-cadherin; eye defects; genital defects; cardiac defects; corpus callosum; intellectual disability

Cadherins constitute a family of transmembrane proteins that mediate calcium-dependent cell-cell adhesion. The extracellular domain of cadherins consists of extracellular cadherin (EC) domains, separated by calcium binding sites. The EC interacts with other cadherin molecules in cis and in trans to...