Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.
Ashley P L MarshDelphine HeronTimothy J EdwardsAngélique QuartierCharles GaleaCaroline NavaAgnès RastetterMarie-Laure MoutardVicki AndersonPierre BitounJens BuntAnne FaudetCatherine GarelGreta GilliesIlan GobiusJustine GueganSolveig HeideBoris KerenFabien LesneVesna LukicSimone A MandelstamGeorge McGillivrayAlissandra McIlroyAurélie MéneretCyril MignotLaura R MorcomSylvie OdentAnnalisa PaolinoKate PopeFlorence RiantGail A RobinsonMegan Spencer-SmithMyriam SrourSarah E M StephensonRick TankardOriane TrouillardQuentin WelniarzAmanda WoodAlexis BriceGuy RouleauTania Attié-BitachMartin B DelatyckiJean-Louis MandelDavid J AmorEmmanuel RozeAmelie PitonMelanie BahloThierry Billette de VillemeurElliott H SherrRichard J LeventerLinda J RichardsPaul J LockhartChristel DepiennePublished in: Nature genetics (2017)
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.