title: A Novel MGC4607/CCM2 Gene Mutation Associated with Cerebral Spinal and Cutaneous Cavernous Angiomas.
abstract: 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.
authors: Department of Laboratory Medicine - Medical Genetics Unit, Niguarda Ca' Granda Hospital, Milano, Italy.
authors: M S
authors: MS
authors: Cigoli
authors: S
authors: S
authors: De Benedetti
authors: A
authors: A
authors: Marocchi
authors: S
authors: S
authors: Bacigaluppi
authors: P
authors: P
authors: Primignani
authors: G
authors: G
authors: Gesu
authors: A
authors: A
authors: Citterio
authors: L
authors: L
authors: Tassi
authors: O
authors: O
authors: Mecarelli
authors: P
authors: P
authors: Pulitano
authors: S
authors: S
authors: Penco
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002352:Carrier Proteins / Q000235:genetics*; D016543:Central Nervous System Neoplasms / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D005091:Exons; D005260:Female; D020786:Hemangioma, Cavernous, Central Nervous System / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D012878:Skin Neoplasms / Q000175:diagnosis / Q000235:genetics*
chemical_list: C502544:CCM2 protein, human; D002352:Carrier Proteins