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Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance
journal contribution
posted on 2017-02-27, 00:00 authored by A P L Marsh, D Heron, T J Edwards, A Quartier, C Galea, C Nava, A Rastetter, M L Moutard, V Anderson, P Bitoun, J Bunt, A Faudet, C Garel, G Gillies, I Gobius, J Guegan, S Heide, B Keren, F Lesne, V Lukic, Amanda WoodAmanda Wood, et al.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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Journal
Nature geneticsVolume
49Issue
4Pagination
511 - 514Publisher
Nature Publishing GroupLocation
London, Eng.Publisher DOI
ISSN
1061-4036eISSN
1546-1718Language
engPublication classification
C1 Refereed article in a scholarly journalCopyright notice
2017, Nature AmericaUsage metrics
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