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

Ashley P.L. Marsh, Delphine Heron, Timothy J. 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 LukicSimone A. Mandelstam, George McGillivray, Alissandra McIlroy, Aurélie Méneret, Cyril Mignot, Laura R. Morcom, Sylvie Odent, Annalisa Paolino, Kate Pope, Florence Riant, Gail A. Robinson, Megan Spencer-Smith, Myriam Srour, Sarah E.M. Stephenson, Rick Tankard, Oriane Trouillard, Quentin Welniarz, Amanda Wood, Alexis Brice, Guy Rouleau, Tania Attié-Bitach, Martin B. Delatycki, Jean Louis Mandel, David J. Amor, Emmanuel Roze, Amélie Piton, Melanie Bahlo, Thierry Billette De Villemeur, Elliott H. Sherr, Richard J. Leventer, Linda J. Richards, Paul J. Lockhart, Christel Depienne

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

Samenvatting

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.
Originele taal-2Engels
Pagina's (van-tot)511-514
Aantal pagina's4
TijdschriftNature Genetics
Volume49
Nummer van het tijdschrift4
DOI's
StatusGepubliceerd - 30 mrt. 2017
Extern gepubliceerdJa

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