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

Content Provider	Springer Nature Link
Author	Mosca, Lorena Pileggi, Silvana Avemaria, Francesca Tarlarini, Claudia Cigoli, Maria Sole Capra, Valeria Marco, Patrizia Pavanello, Marco Marocchi, Alessandro Penco, Silvana
Copyright Year	2012
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.
Starting Page	475
Ending Page	480
Page Count	6
File Format	PDF
ISSN	08958696
Journal	Journal of Molecular Neuroscience
Volume Number	47
Issue Number	3
e-ISSN	15591166
Language	English
Publisher	Humana Press Inc
Publisher Date	2012-03-14
Publisher Place	New York
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Cerebral cavernous malformations MGC4607 gene CCM2 De novo mutation Proteomics Neurosciences Neurology Cell Biology Neurochemistry
Content Type	Text
Resource Type	Article
Subject	Medicine Cellular and Molecular Neuroscience

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