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

Marsh, Ashley P.L., Heron, Delphine, Edwards, Timothy J., Quartier, Angélique, Galea, Charles, Nava, Caroline, Rastetter, Agnès, Moutard, Marie-laure, Anderson, Vicki, Bitoun, Pierre, Bunt, Jens, Faudet, Anne, Garel, Catherine, Gillies, Greta, Gobius, Ilan, Guegan, Justine, Heide, Solveig, Keren, Boris, Lesne, Fabien, Lukic, Vesna, Mandelstam, Simone A., Mcgillivray, George, Mcilroy, Alissandra, Méneret, Aurélie, Mignot, Cyril, Morcom, Laura R., Odent, Sylvie, Paolino, Annalisa, Pope, Kate, Riant, Florence, Robinson, Gail A., Spencer-Smith, Megan, Srour, Myriam, Stephenson, Sarah E.M., Tankard, Rick, Trouillard, Oriane, Welniarz, Quentin, Wood, Amanda, Brice, Alexis, Rouleau, Guy, Attié-bitach, Tania, Delatycki, Martin B., Mandel, Jean-louis, Amor, David J., Roze, Emmanuel, Piton, Amélie, Bahlo, Melanie, Billette de Villemeur, Thierry, Sherr, Elliott H., Leventer, Richard J., Richards, Linda J., Lockhart, Paul J. and Depienne, Christel (2017). Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics, 49 , 511–514.

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.

Publication DOI: https://doi.org/10.1038/ng.3794
Divisions: Life & Health Sciences
Published Date: 2017-04
Authors: Marsh, Ashley P.L.
Heron, Delphine
Edwards, Timothy J.
Quartier, Angélique
Galea, Charles
Nava, Caroline
Rastetter, Agnès
Moutard, Marie-laure
Anderson, Vicki
Bitoun, Pierre
Bunt, Jens
Faudet, Anne
Garel, Catherine
Gillies, Greta
Gobius, Ilan
Guegan, Justine
Heide, Solveig
Keren, Boris
Lesne, Fabien
Lukic, Vesna
Mandelstam, Simone A.
Mcgillivray, George
Mcilroy, Alissandra
Méneret, Aurélie
Mignot, Cyril
Morcom, Laura R.
Odent, Sylvie
Paolino, Annalisa
Pope, Kate
Riant, Florence
Robinson, Gail A.
Spencer-Smith, Megan
Srour, Myriam
Stephenson, Sarah E.M.
Tankard, Rick
Trouillard, Oriane
Welniarz, Quentin
Wood, Amanda ( 0000-0002-1537-6858)
Brice, Alexis
Rouleau, Guy
Attié-bitach, Tania
Delatycki, Martin B.
Mandel, Jean-louis
Amor, David J.
Roze, Emmanuel
Piton, Amélie
Bahlo, Melanie
Billette de Villemeur, Thierry
Sherr, Elliott H.
Leventer, Richard J.
Richards, Linda J.
Lockhart, Paul J.
Depienne, Christel

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