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

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., Lukic, V., Mandelstam, S.A., McGillivray, G., McIlroy, A., Méneret, A., Mignot, C., Morcom, L.R., Odent, S., Paolino, A., Pope, K., Riant, F., Robinson, G.A., Spencer-Smith, M., Srour, M., Stephenson, S.E.M., Tankard, R.ORCID: 0000-0002-8847-9401, Trouillard, O., Welniarz, Q., Wood, A., Brice, A., Rouleau, G., Attié-Bitach, T., Delatycki, M.B., Mandel, J-L, Amor, D.J., Roze, E., Piton, A., Bahlo, M., Billette de Villemeur, T., Sherr, E.H., Leventer, R.J., Richards, L.J., Lockhart, P.J. and Depienne, C. (2017) Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics, 49 (4). pp. 511-514.

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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.

Item Type: Journal Article
Publisher: Nature Research
Copyright: © 2017 Nature America, Inc., part of Springer Nature.
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