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: | College of Health & Life Sciences > School of Psychology College of Health & Life Sciences |
| Publication ISSN: | 1546-1718 |
| Last Modified: | 13 Nov 2024 08:09 |
| Date Deposited: | 21 Mar 2017 10:05 | PURE Output Type: | Article |
| Published Date: | 2017-04 |
| Published Online Date: | 2017-02-27 |
| Accepted Date: | 2017-01-25 |
| Submitted Date: | 2016-06-10 |
| 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 |
CORE (COnnecting REpositories)
CORE (COnnecting REpositories)