2015
DOI: 10.1007/s12031-015-0606-6
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Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations

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… Show more

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Cited by 28 publications
(17 citation statements)
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“…These above collective findings suggest that both Rosi and ROCK-i may be suitable candidates for changing TGF-β profibrotic signaling into pro-migratory BMP, resulting in the facilitation of the cell migration that is required for wound healing of conjunctiva. Furthermore, these observations also provide significant insights into other pathologies in which the TGF-β pathway and the role of the extracellular matrix is pivotal, such as cerebral cavernous malformations [ 33 , 34 , 35 ].…”
Section: Introductionmentioning
confidence: 99%
“…These above collective findings suggest that both Rosi and ROCK-i may be suitable candidates for changing TGF-β profibrotic signaling into pro-migratory BMP, resulting in the facilitation of the cell migration that is required for wound healing of conjunctiva. Furthermore, these observations also provide significant insights into other pathologies in which the TGF-β pathway and the role of the extracellular matrix is pivotal, such as cerebral cavernous malformations [ 33 , 34 , 35 ].…”
Section: Introductionmentioning
confidence: 99%
“…The CSC interacts with other proteins and has affinity for a wide range of ligands; interactions with ligands contribute to cellular processes including cell migration, adhesion and apoptosis (Hilder et al., 2007; Zhang et al., 2001a, 2008, 2017). CCM proteins have been shown to alter pathways associated with angiogenesis, the process of new blood vessel development (Faurobert and Albiges-Rizo, 2010; He et al., 2010; Plummer et al., 2005; Scimone et al., 2015; Stockton et al., 2010), vascular angiogenesis (Zhang et al., 2005; Zhang et al., 2001a, b), blood vessel stability (Liu et al., 2010), cell adhesion to extracellular matrix, tube formation and endothelial cell morphogenesis (Faurobert and Albiges-Rizo, 2010; Liu et al., 2011). An association between vascular endothelial growth factor (VEGF) and CCM's have also been correlated to angiogenesis pathways, creating a more complex understanding of how all these pathways coordinate together (Distefano et al., 2014; He et al., 2010; Hoeben et al., 2004; Sun et al., 2003).…”
Section: Introductionmentioning
confidence: 99%
“…SWI sequence on 4/16/2018 showed more microhemorrhagic lesions and larger lesion size in the brain than SWI on 12/25/2017, which was the main reason for the progressively worsening headaches; 2) the patient with CCMs simultaneously suffered from multiple nodular skin lesions with a diameter of about 1 cm, which was rare in CCMs; 3) about 150 different mutations have been found in CCM1 leading to CCMs. 29 40 different mutations in CCM2 30 and 15 different mutations in CCM3 have been identified in Western countries. 31 It appears that CCM1 is the dominant genetic cause of CCMs in Chinese people.…”
Section: Discussionmentioning
confidence: 99%