Review of familial cerebral cavernous malformations and report of seven additional families

Vos, Ivo J. H. M. de; Vreeburg, Maaike; Koek, Ger H.; Steensel, M.A.M. van

doi:10.1002/ajmg.a.38028

Cited by 32 publications

(29 citation statements)

References 98 publications

(464 reference statements)

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“…In addition, the level of the penetrance and the degree to which a certain gene contributes to the disease are variable. (42) The above-mentioned factors may explain why subject III-18 shared the haplotype but did not display any symptoms.…”

Section: Discussionmentioning

confidence: 99%

DDX24 Mutations Associated With Malformations of Major Vessels to the Viscera

Pang

Zhou

et al. 2019

Hepatology

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Section: Discussionmentioning

confidence: 99%

DDX24 Mutations Associated With Malformations of Major Vessels to the Viscera

Pang

Zhou

et al. 2019

Hepatology

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“…Other mutations implicated in VM include the glomulin (GLMN) gene (Ch 1p21-22) in Glomulovenous malformations (GVM) and the cerebral cavernous malformation 1 gene (CCM1) in Nodular VMs, which are often associated with intracerebral cavernous malformations 24,25 Table 2. outlines the genetic causes of different subtypes of VMs.…”

Section: Resultsmentioning

confidence: 99%

Venous malformations: Coagulopathy control and treatment methods

et al. 2020

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Venous malformations (VMs) are ectatic channels which arise as a result of vascular dysmorphogenesis, commonly caused by activating mutations in the endothelial tyrosine kinase receptor (TIE2)/phosphatidylinositol 3-kinase (PI3Kinase) pathway. With a prevalence of 1% in the general population, and a diverse clinical presentation depending on site, size and tissue involvement, their treatment requires a personalised and multidisciplinary approach. Larger lesions are complicated by local intravascular coagulopathy (LIC) causing haemorrhagic and/or thrombotic complications which can progress to disseminated intravascular coagulopathy (DIC). Methods We performed a literature review using a PubMed® search and identified 15 articles to include. References of these texts were examined to further expand the literature review. Principle findings: Several treatment options have been explored, including compression, sclerotherapy, laser therapy, cryoablation and surgery in addition to the management of LIC with low-molecular-weight-heparin (LMWH) and other anticoagulants. Targeted molecular therapies acting on the phosphatidylinositol 3-kinase (PI3Kinase)/Protein Kinase B (AKT)/mammalian target of rapamycin (mTOR) pathway are newly emerging. Conclusion Despite a wealth of literature, larger, multi-centric, randomised and prospective trails are required to offer further clarification on the therapeutic management of coagulopathy control and to provide symptomatic benefit to patients with VMs. There should be efforts to provide long term follow up and to use standardised risk stratification tools and quality of life (QOL) questionnaires to aid comparison of agents and treatment protocols.

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“…Members without this mutation did not have lesions on an MRI scan. Clinical penetrance was estimated to be nearly 88% for KRIT1, 100% for CCM2, and 63% for PDCD10 (de Vos et al, 2017). And CCM2 is the only gene which was reported to cause 100% radiological changes, which means that the offspring have a 50% risk of developing the CCM disease if one of the parents carries the c.331G > C mutation.…”

Section: Discussionmentioning

confidence: 99%

A Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family

Han

Qiao

et al. 2021

Front. Neurosci.

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Cerebral cavernous malformations (CCMs) are common vascular malformations in the central nervous system. Familial CCMs (FCCMs) are autosomal dominant inherited disease with incomplete penetrance and variable symptoms. Mutations in the KRIT1, CCM2, and PDCD10 genes cause the development of FCCM. Approximately 476 mutations of three CCM-related genes have been reported, most of which were case reports, and lack of data in stable inheritance. In addition, only a small number of causative missense mutations had been identified in patients. Here, we reported that 8/20 members of a Chinese family were diagnosed with CCMs. By direct DNA sequencing, we found a novel variant c.331G > C (p.A111P) in exon 4 of the CCM2 gene, which was a heterozygous exonic variant, in 7/20 family members. We consider this variant to be causative of disease due to a weaken the protein–protein interaction between KRIT1 and CCM2. In addition, we also found the exon 13 deletion in KRIT1 coexisting with the CCM2 mutation in patient IV-2, and this was inherited from her father (patient III-1H). This study of a Chinese family with a large number of patients with CCMs and stable inheritance of a CCM2 mutation contributes to better understanding the spectrum of gene mutations in CCMs.

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Review of familial cerebral cavernous malformations and report of seven additional families

Cited by 32 publications

References 98 publications

DDX24 Mutations Associated With Malformations of Major Vessels to the Viscera

DDX24 Mutations Associated With Malformations of Major Vessels to the Viscera

Venous malformations: Coagulopathy control and treatment methods

A Novel CCM2 Missense Variant Caused Cerebral Cavernous Malformations in a Chinese Family

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