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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Ashley P. L. Marsh Delphine Héron 1, 2 Timothy J. Edwards Angélique Quartier 3 Charles Galea Caroline Nava 4, 5 Agnès Rastetter 5 Marie-Laure Moutard 6 Vicki Anderson Pierre Bitoun 7 Jens Bunt Anne Faudet 4 Catherine Garel 6 Greta Gillies Ilan Gobius Justine Guegan 5 Solveig Heide 2 Boris Keren 4, 5 Fabien Lesne 4 Vesna Lukic Simone A. Mandelstam George Mcgillivray Alissandra Mcilroy Aurélie Méneret 5 Cyril Mignot 1 Laura R. Morcom Sylvie Odent 8, 9 Annalisa Paolino Kate Pope Florence Riant Gail A. Robinson Megan Spencer-Smith Myriam Srour Sarah E. M. Stephenson Rick Tankard Oriane Trouillard 5 Quentin Welniarz 10, 5 Amanda Wood Alexis Brice 5 Guy Rouleau 11 Tania Attie-Bitach 12, 13 Martin B. Delatycki Jean-Louis Mandel 14, 3, 15 David J. Amor Emmanuel Roze 5, 16 Amélie Piton 17, 3 Melanie Bahlo 18 Thierry Billette de Villemeur 19 Elliott H. Sherr Richard J. Leventer Linda J. Richards * Paul J. Lockhart * Christel Depienne 20, 5, 3, * 
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.
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Ashley P. L. Marsh, Delphine Héron, Timothy J. Edwards, Angélique Quartier, Charles Galea, et al.. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩. ⟨hal-01502133⟩



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