e-Article
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
Document Type
article
Author
Marsh, Ashley PL; Heron, Delphine; Edwards, Timothy J; Quartier, Angélique; Galea, Charles; Nava, Caroline; Rastetter, Agnès; Moutard, Marie-Laure; Anderson, Vicki; Bitoun, Pierre; Bunt, Jens; Faudet, Anne; Garel, Catherine; Gillies, Greta; Gobius, Ilan; Guegan, Justine; Heide, Solveig; Keren, Boris; Lesne, Fabien; Lukic, Vesna; Mandelstam, Simone A; McGillivray, George; McIlroy, Alissandra; Méneret, Aurélie; Mignot, Cyril; Morcom, Laura R; Odent, Sylvie; Paolino, Annalisa; Pope, Kate; Riant, Florence; Robinson, Gail A; Spencer-Smith, Megan; Srour, Myriam; Stephenson, Sarah EM; Tankard, Rick; Trouillard, Oriane; Welniarz, Quentin; Wood, Amanda; Brice, Alexis; Rouleau, Guy; Attié-Bitach, Tania; Delatycki, Martin B; Mandel, Jean-Louis; Amor, David J; Roze, Emmanuel; Piton, Amélie; Bahlo, Melanie; Billette de Villemeur, Thierry; Sherr, Elliott H; Leventer, Richard J; Richards, Linda J; Lockhart, Paul J; Depienne, Christel
Source
Nature Genetics. 49(4)
Subject
Language
Abstract
Brain malformations involving the corpus callosum are common in children with developmental disabilities. We identified DCC mutations in four families and five sporadic individuals with isolated agenesis of the corpus callosum (ACC) without intellectual disability. DCC mutations result in variable dominant phenotypes with decreased penetrance, including mirror movements and ACC associated with a favorable developmental prognosis. Possible phenotypic modifiers include the type and location of mutation and the sex of the individual.