Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance - Development and Plasticity of Neural Networks Access content directly
Journal Articles Nature Genetics Year : 2017

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

Ashley P. L. Marsh
  • Function : Author
Timothy J. Edwards
  • Function : Author
Charles Galea
  • Function : Author
Vicki Anderson
  • Function : Author
Jens Bunt
  • Function : Author
Greta Gillies
  • Function : Author
Ilan Gobius
  • Function : Author
Vesna Lukic
  • Function : Author
Simone A. Mandelstam
  • Function : Author
George Mcgillivray
  • Function : Author
Alissandra Mcilroy
  • Function : Author
Laura R. Morcom
  • Function : Author
Annalisa Paolino
  • Function : Author
Kate Pope
  • Function : Author
Florence Riant
Gail A. Robinson
  • Function : Author
Megan Spencer-Smith
  • Function : Author
Myriam Srour
  • Function : Author
Sarah E. M. Stephenson
  • Function : Author
Rick Tankard
  • Function : Author
Amanda Wood
  • Function : Author
Guy Rouleau
Martin B. Delatycki
  • Function : Author
David J. Amor
  • Function : Author
Melanie Bahlo
Elliott H. Sherr
  • Function : Author
Richard J. Leventer
  • Function : Author
Linda J. Richards
  • Function : Correspondent author
Paul J. Lockhart
  • Function : Correspondent author

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.

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Genetics
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Dates and versions

hal-01502133 , version 1 (03-05-2018)

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Ashley P. L. Marsh, Delphine Héron, Timothy J. Edwards, Angélique Quartier, Charles Galea, et al.. Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance. Nature Genetics, 2017, 49 (4), pp.511-514. ⟨10.1038/ng.3794⟩. ⟨hal-01502133⟩
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