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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_614insGG p.Glu205GlyfsTer31), which disrupt crucial protein domains and potentially alter disease progression. OBJECTIVE: The...

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PMID: 39181174
DOI: 10.1016/j.jstrokecerebrovasdis.2024.107947

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Source receipt: pubmed, retrieved 7 Sept 2026.

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