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

Nat Genet 2017 Apr 27;49(4):511-514. Epub 2017 Feb 27.

AP-HP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, Paris, France.

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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http://dx.doi.org/10.1038/ng.3794DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5894478PMC
April 2017
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