Abstract
In 1928, Hugo Friedrich Kufs reported on a family with cerebral, retinal, and cutaneous cavernous malformations. Since then, more than 300 families with inherited cavernous malformations have been reported. Genetic studies showed three loci, on chromosomes 7q21-q22 (with the gene CCM1), 7p15-p13 (CCM2), and 3q25.2-q27 (CCM3). The gene product of CCM1 is Krit 1 (Krev interaction trapped 1), a protein interacting with angiogenesis by various mechanisms. Recently, CCM2 has also been identified; its product is a protein which might have a function similar to that of Krit 1. However, the CCM3 gene has still not been found. In this study, we present clinical and genetic findings on 15 German families.
MeSH terms
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Adult
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Brain / metabolism*
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Carrier Proteins / genetics*
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DNA Mutational Analysis / methods
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Female
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Genetic Predisposition to Disease / epidemiology
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Genetic Testing / methods*
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Germany / epidemiology
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Humans
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Intracranial Arteriovenous Malformations / epidemiology*
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Intracranial Arteriovenous Malformations / genetics
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Intracranial Arteriovenous Malformations / metabolism*
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KRIT1 Protein
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Male
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Microtubule-Associated Proteins / genetics*
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Pedigree
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Polymorphism, Genetic
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Prevalence
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Proto-Oncogene Proteins / genetics*
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Risk Assessment / methods*
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Risk Factors
Substances
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CCM2 protein, human
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Carrier Proteins
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KRIT1 Protein
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KRIT1 protein, human
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Microtubule-Associated Proteins
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Proto-Oncogene Proteins