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Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations

Haghighi, A. and Fathi, D. and Shahbazi, M. and Motahari, M.-M. and Friedman, B. (2013) Identification of a c.601C>G mutation in the CCM1 gene in a kindred with multiple skin, spinal and cerebral cavernous malformations. Journal of the Neurological Sciences, 334 (1-2). pp. 97-101.

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Cerebral cavernous malformations (CCM) are congenital vascular anomalies predominantly of the central nervous system but may include lesions in other tissues such as the retina, skin, and liver. These hamartomatous dysplasias, generally occurring sporadically, consist of dynamic clustered convoluted capillary cavities without intervening brain parenchyma that may lead to headaches, seizures, paresis, cerebral hemorrhages and focal neurological deficits. Familial forms of CCM, inherited in an autosomal dominant manner with incomplete penetrance and variable expression, are attributed to mutations in three genes, CCM1, CCM2 and CCM3. Here, we report a kindred of Persian descent exhibiting a range of clinical symptoms and features that include seizures, multiple lesions of the brain and spinal cord, and severe hyperkeratotic cutaneous capillary-venous malformations. Sanger DNA sequencing and deletion/duplication testing of the CCM1, CCM2, and CCM3 genes in the proband revealed a CCM1 c.601C>G mutation. Targeted mutation analysis in family members confirmed that this mutation segregated with the disease in the family. This family illustrates the phenotypic heterogeneity that has been observed in other reported CCM-pedigrees and highlights the importance of genetic testing for early diagnosis in familial CCM. To our knowledge, this is the first genetic investigation of CCM in the Persian population. © 2013 Elsevier B.V.

Item Type: Article
Additional Information: cited By 4
Uncontrolled Keywords: carbamazepine; lamotrigine, adolescent; adult; amino acid substitution; anticonvulsant therapy; article; bone marrow biopsy; brain damage; brain hemorrhage; cancer chemotherapy; case report; cavernous hemangioma; cerebrovascular disease; clinical feature; complex partial seizure; conus medullaris; disease severity; DNA sequence; early diagnosis; family; female; gene deletion; gene duplication; gene identification; gene mutation; genetic screening; hemisphere; human; Iran; leukemia remission; leukocytosis; male; microarray analysis; myeloid leukemia; nuclear magnetic resonance imaging; occipital lobe; paralysis; phenotype; Philadelphia 1 chromosome; priority journal; seizure; skin capillary; skin hemangioma; skin malformation; spinal cord lesion; spine malformation; tonic clonic seizure; treatment response, CCM1; Cerebral cavernous malformations; Cutaneous vascular malformation; Krit1; Persian, Apoptosis Regulatory Proteins; Carrier Proteins; Female; Genetic Predisposition to Disease; Hemangioma, Cavernous, Central Nervous System; Humans; Iran; Male; Membrane Proteins; Microtubule-Associated Proteins; Mutation; Pedigree; Proto-Oncogene Proteins; Skin Abnormalities
Subjects: مقالات نمایه شده محققین دانشگاه در سایت ,Web of Science ,Scopus
Divisions: معاونت تحقیقات و فناوری
Depositing User: GOUMS
Date Deposited: 25 Jul 2017 08:02
Last Modified: 25 Jul 2017 08:02
URI: http://eprints.goums.ac.ir/id/eprint/9335

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