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

Research output: Contribution to journalArticleResearchpeer-review

33 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)511-514
Number of pages4
JournalNature Genetics
Volume49
Issue number4
DOIs
Publication statusPublished - Apr 2017

Keywords

  • developmental biology
  • genetics
  • neurodevelopmental disorders
  • neuroscience

Cite this

Marsh, A. P. L., Heron, D., Edwards, T. J., Quartier, A., Galea, C., Nava, C., Rastetter, A., Moutard, M. L., Anderson, V., Bitoun, P., Bunt, J., Faudet, A., Garel, C., Gillies, G., Gobius, I., Guegan, J., Heide, S., Keren, B., Lesne, F., ... Depienne, C. (2017). Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics, 49(4), 511-514. https://doi.org/10.1038/ng.3794