Journal article
Periventricular heterotopia in 6q terminal deletion syndrome: Role of the C6orf70 gene
V Conti, A Carabalona, E Pallesi-Pocachard, E Parrini, RJ Leventer, E Buhler, G McGillivray, FJ Michel, P Striano, D Mei, F Watrin, S Lise, AT Pagnamenta, JC Taylor, U Kini, J Clayton-Smith, F Novara, O Zuffardi, WB Dobyns, IE Scheffer Show all
Brain | OXFORD UNIV PRESS | Published : 2013
DOI: 10.1093/brain/awt249
Abstract
Periventricular nodular heterotopia is caused by defective neuronal migration that results in heterotopic neuronal nodules lining the lateral ventricles. Mutations in filamin A (FLNA) or ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2) cause periventricular nodular heterotopia, but most patients with this malformation do not have a known aetiology. Using comparative genomic hybridization, we identified 12 patients with developmental brain abnormalities, variably combining periventricular nodular heterotopia, corpus callosum dysgenesis, colpocephaly, cerebellar hypoplasia and polymicrogyria, harbouring a common 1.2Mb minimal critical deletion in 6q27. These anatomic feat..
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Awarded by NIHR Oxford Biomedical Research Centre
Funding Acknowledgements
This work was supported by funding from the Sixth Framework Programme of the EU, project grant LSH-CT-2006-037315 (EPICURE) (to R.G., A.R. and C.C.), the European Research Projects on Rare Diseases (E-Rare-2, TUB-GENCODEV, 11-027) (to R.G.), the Oxford NIHR Biomedical Research Centre Oxford and FWF grants P24367-B24 and I914-B13 (to D.A.K), INSERM (to A.R. and C.C.), the Health Research Council of New Zealand (to S.P.R.) and the Cure Kids New Zealand (to S.P.R.). A.C. is supported by a fellowship from FRM (Fondation pour la Recherche Medicale) and E.P.P. is a postdoctoral researcher supported by Else Kroner-Fresenius-Stiftung foundation (2010_A145). RJL and GM are supported by the Murdoch Children's Research Institute and the Victorian State Government Operational Infrastructure Support Program.