Title |
Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations
|
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Published in |
Journal of Molecular Neuroscience, June 2015
|
DOI | 10.1007/s12031-015-0606-6 |
Pubmed ID | |
Authors |
Concetta Scimone, Placido Bramanti, Alessia Ruggeri, Zoe Katsarou, Luigi Donato, Antonina Sidoti, Rosalia D’Angelo |
Abstract |
Cerebral cavernous malformations are vascular lesions that usually involve brain micro-vessels. They can occur both in a sporadic form and familial one. Causes of familial forms are mutations at three loci: CCM1/KRIT1, CCM2/MGC4607, and CCM3/PDCD10. Here, we describe a novel CCM3 missense mutation (c.422T>G) detected in two Greek brothers showing multiple lesions at magnetic resonance imaging; to date, only the youngest is symptomatic. Bioinformatics tools showed this novel variant causes a loss of function in Pdcd10 protein due to its localization in the eighth helix and, particularly, affects Leu141, a highly conserved amino acid. Roles of Pdcd10 in angiogenesis regulation and its association with early development of cerebral cavernous malformations were also considered. |
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United States | 1 | 50% |
Unknown | 1 | 50% |
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Members of the public | 2 | 100% |
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Student > Doctoral Student | 3 | 18% |
Other | 2 | 12% |
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