Journal of Molecular Neuroscience

, Volume 47, Issue 3, pp 475–480

De Novo MGC4607 Gene Heterozygous Missense Variants in a Child with Multiple Cerebral Cavernous Malformations

  • Lorena Mosca
  • Silvana Pileggi
  • Francesca Avemaria
  • Claudia Tarlarini
  • Maria Sole Cigoli
  • Valeria Capra
  • Patrizia De Marco
  • Marco Pavanello
  • Alessandro Marocchi
  • Silvana Penco
Article

DOI: 10.1007/s12031-012-9741-5

Cite this article as:
Mosca, L., Pileggi, S., Avemaria, F. et al. J Mol Neurosci (2012) 47: 475. doi:10.1007/s12031-012-9741-5

Abstract

Cavernous malformations are angiographically occult, low-pressure neurovascular lesions with distinct imaging and clinical characteristics; main clinical manifestations are seizure, focal neurological deficits and epileptic attacks. Here we describe the molecular characterization of an Italian child, a symptomatic patient, affected by multiple cerebral cavernous malformations, without a family history of the disease and harbouring a new MGC4607 gene mutation. We identified two de novo missense variants in exon 6 of the gene both present on the same allele (cis configuration). DNA analysis for KRIT1, and PDCD10 gene variation through direct sequencing and MLPA analysis excluded further mutations. STR multiplex assay, allele-specific analysis and DHPLC analysis were performed for a better genetic characterization. Our findings emphasize the importance of the genetic test in subjects presenting multiple cerebral cavernomas for an adequate counselling, as well as for disease management since early identification of genetic abnormalities enable patients to have their lesions removed before they haemorrhage and cause deficit and/or epilepsy.

Keywords

Cerebral cavernous malformations MGC4607 gene CCM2 De novo mutation 

Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Lorena Mosca
    • 1
  • Silvana Pileggi
    • 1
  • Francesca Avemaria
    • 1
  • Claudia Tarlarini
    • 1
  • Maria Sole Cigoli
    • 1
  • Valeria Capra
    • 2
  • Patrizia De Marco
    • 2
  • Marco Pavanello
    • 2
  • Alessandro Marocchi
    • 1
  • Silvana Penco
    • 1
  1. 1.Department of Laboratory Medicine, Medical GeneticsNiguarda Ca’ Granda HospitalMilanItaly
  2. 2.Neurosurgery UnitG. Gaslini InstituteGenoaItaly

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