A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas

• Published in: Journal of molecular neuroscience Vol. 56; no. 3; pp. 602 - 607
• Main Authors: Cigoli, M. S., De Benedetti, S., Marocchi, A., Bacigaluppi, S., Primignani, P., Gesu, G., Citterio, A., Tassi, L., Mecarelli, O., Pulitano, P., Penco, S.
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.07.2015; Springer Nature B.V
• Subjects: Adolescent; Adult; Aged; Asymptomatic; Biomedical and Life Sciences; Biomedicine; Carrier Proteins - genetics; Cell Biology; Central Nervous System Neoplasms - diagnosis; Central Nervous System Neoplasms - genetics; Child; Cloning; Convulsions & seizures; Epilepsy; Exons; Female; Genes; Hemangioma, Cavernous, Central Nervous System - diagnosis; Hemangioma, Cavernous, Central Nervous System - genetics; Hospitals; Humans; Kinases; Magnetic resonance imaging; Male; Mutation; Neurochemistry; Neurology; Neurosciences; Pedigree; Proteomics; Skin Neoplasms - diagnosis; Skin Neoplasms - genetics; Italy; Familial cerebral cavernous malformations; CCM2; Epilepsy; Novel mutation
• ISSN: 0895-8696; 1559-1166; 1559-1166
• DOI: 10.1007/s12031-015-0555-0

Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, headaches, intracerebral hemorrhages, and focal neurological deficits; they can also be clinically silent and occur as a sporadic or an autosomal dominant condition. Three genes have been identified as causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3, mapping, respectively, on chromosomes 7q, 7p, and 3q. Here, we report an Italian family affected by CCM due to a MGC4607 gene mutation, on exon 4. All the affected subjects suffered from seizures, and some of them underwent surgery for removal of a cavernous angioma. Brain MRI showed multiple lesions consistent with CCMs in all patients. Spinal and cutaneous cavernous angiomas were present too. This report underlines the need for a careful interdisciplinarity among neurologists, neuroradiologists, neurosurgeons, geneticists, ophthalmologists, and dermatologists for a total evaluation of the different manifestations of familial CCM. This points out that only referral centers are organized to offer a multidisciplinary management of this disease.