| Literature DB >> 28250454 |
Ashley P L Marsh1,2, Delphine Heron3,4,5, Timothy J Edwards6,7, Angélique Quartier8, Charles Galea9, Caroline Nava3,10, Agnès Rastetter10, Marie-Laure Moutard11,12,13, Vicki Anderson14, Pierre Bitoun15, Jens Bunt6, Anne Faudet3, Catherine Garel16, Greta Gillies1, Ilan Gobius6, Justine Guegan17, Solveig Heide3,4, Boris Keren3,10, Fabien Lesne3, Vesna Lukic18, Simone A Mandelstam2,19,20, George McGillivray21, Alissandra McIlroy14, Aurélie Méneret10,22, Cyril Mignot3,4,5, Laura R Morcom6, Sylvie Odent23,24, Annalisa Paolino6, Kate Pope1, Florence Riant25, Gail A Robinson26, Megan Spencer-Smith14,27, Myriam Srour28,29, Sarah E M Stephenson1,2, Rick Tankard30,31, Oriane Trouillard10, Quentin Welniarz10,32, Amanda Wood14,33, Alexis Brice3,10, Guy Rouleau29,34, Tania Attié-Bitach35,36, Martin B Delatycki1,2,37, Jean-Louis Mandel8,38, David J Amor1,2, Emmanuel Roze10,22, Amélie Piton8,38, Melanie Bahlo30,31, Thierry Billette de Villemeur5,11,12,39, Elliott H Sherr40, Richard J Leventer2,41,42, Linda J Richards6,43, Paul J Lockhart1,2, Christel Depienne3,8,10,38.
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.Entities:
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Year: 2017 PMID： 28250454 PMCID： PMC5894478 DOI： 10.1038/ng.3794
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330