Article
Comprehensive analysis of Novel mutations in CCM1/KRIT1 and CCM2/MGC4607 and their clinical implications in Cerebral Cavernous malformations.
Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association - 1 Nov 2024
Galvão Gustavo da Fontoura, Trefilio Luisa Menezes, Salvio Andreza Lemos, da Silva Elielson Veloso, Alves-Leon Soniza Vieira, Fontes-Dantas Fabrícia Lima, de Souza Jorge Marcondes
Abstract excerpt
BACKGROUND: Cerebral Cavernous Malformations (CCM) is a genetic disease characterized by vascular abnormalities in the brain and spinal cord, affecting 0.4-0.5 % of the population. We identified two novel pathogenic mutations, CCM1/KRIT1 c.811delT (p.Trp271GlyfsTer5) and CCM2/MGC4607 c.613_614ins...
Topics
- Humans
- Hemangioma, Cavernous, Central Nervous System
- KRIT1 Protein
- Female
- Male
- Mutation
- Adult
- Genetic Predisposition to Disease
- Proto-Oncogene Proteins
- Middle Aged
- Brazil
- Phenotype
- DNA Mutational Analysis