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

作者：Marsh Ashley P L; Heron Delphine; Edwards Timothy J; Quartier Angelique; Galea Charles; Nava Caroline; Rastetter Agnes; 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; Meneret Aurelie; Mignot Cyril; Morcom Laura R; Odent Sylvie; Paolino Annalisa; Pope Kate

来源：Nature Genetics, 2017, 49(4): 511-+.

DOI：10.1038/ng.3794

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.

• 出版日期2017-4
• 单位河北医科大学; McGill