Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Journal: Nature Genetics
Published:
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.
Authors
Ashley P Marsh, Delphine Heron, Timothy Edwards, Angélique Quartier, Charles Galea, Caroline Nava, Agnès Rastetter, Marie-laure Moutard, Vicki Anderson, Pierre Bitoun, Jens Bunt, Anne Faudet, Catherine Garel, Greta Gillies, Ilan Gobius, Justine Guegan, Solveig Heide, Boris Keren, Fabien Lesne, Vesna Lukic, Simone Mandelstam, George Mcgillivray, Alissandra Mcilroy, Aurélie Méneret, Cyril Mignot, Laura Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail Robinson, Megan Spencer Smith, Myriam Srour, Sarah E Stephenson, Rick Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy Rouleau, Tania Attié Bitach, Martin Delatycki, Jean-louis Mandel, David Amor, Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette De Villemeur, Elliott Sherr, Richard Leventer, Linda Richards, Paul Lockhart, Christel Depienne
Relevant Conditions