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

Marsh, AP; Heron, D; Edwards, TJ; Quartier, A; Galea, C; Nava, C; Rastetter, A; Moutard, ML; 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, SA; McGillivray, G; McIlroy, A; Meneret, A; Mignot, C; Morcom, LR; Odent, S; Paolino, A; Pope, K; Riant, F; Robinson, GA; Spencer-Smith, M; Srour, M; Stephenson, SE; Tankard, R; Trouillard, O; Welniarz, Q; Wood, A; Brice, A; Rouleau, G; Attie-Bitach, T; Delatycki, MB; Mandel, JL; Amor, DJ; Roze, E; Piton, A; Bahlo, M; Billette de Villemeur, T; Sherr, EH; Leventer, RJ; Richards, LJ; Lockhart, PJ; Depienne, C

Author(s): Marsh, AP; Heron, D; Edwards, TJ; Quartier, A; Galea, C; Nava, C; Rastetter, A; Moutard, ML; 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, SA; McGillivray, G; McIlroy, A; Meneret, A; Mignot, C; Morcom, LR; Odent, S; Paolino, A; Pope, K; Riant, F; Robinson, GA; Spencer-Smith, M; Srour, M; Stephenson, SE; Tankard, R; Trouillard, O; Welniarz, Q; Wood, A; Brice, A; Rouleau, G; Attie-Bitach, T; Delatycki, MB; Mandel, JL; Amor, DJ; Roze, E; Piton, A; Bahlo, M; Billette de Villemeur, T; Sherr, EH; Leventer, RJ; Richards, LJ; Lockhart, PJ; Depienne, C;
Details: Publication Year 2017-02-27,Volume 49,Issue #4,Page 511-514
Journal Title: Nat Genet
Publication Type: Journal Article
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.
Publisher: Springer Nature
Research Division(s): Population Health And Immunity
PubMed ID: 28250454
Publisher's Version: https://doi.org/10.1038/ng.3794
NHMRC Grants: NHMRC/1054618,
Terms of Use/Rights Notice: Refer to copyright notice on published article.

Creation Date: 2017-04-06 09:27:32

Last Modified: 2017-04-06 11:26:56