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

Date publication

avril 2017

Journal

Nature genetics

Auteurs

Membres identifiés du Cancéropôle Est :
Pr MANDEL Jean-Louis

Tous les auteurs :
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, Méneret 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, Attié-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

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/28250454

Résumé

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.

Mots clés

Abnormalities, Multiple, genetics, Agenesis of Corpus Callosum, genetics, Brain, pathology, Corpus Callosum, pathology, DCC Receptor, Developmental Disabilities, genetics, Family, Female, Humans, Male, Mutation, genetics, Nervous System Malformations, genetics, Neural Stem Cells, pathology, Penetrance, Phenotype, Receptors, Cell Surface, genetics, Tumor Suppressor Proteins, genetics

Référence

Nat. Genet.. 2017 Apr;49(4):511-514