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KMID : 0379520050210020135
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한국독성학회지
2005 Volume.21 No. 2 p.135 ~ p.140
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Family Linkage Analysis of CCM1 Locus on Chromosome 7q in Familial Cavernous Malformation
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Sim Ki-Bum
Lee Chang-Sub
Kim Seung-Ki
Wang Kyu-Chang
Kim Young-Im
Cho Byung-Kyu
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Abstract
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Although the pathogenesis of cerebral cavernous malformation (CCM) is unknown, a familial predisposition has been recognized, with up to 55% of patients having an affected relatives. Genetic linkage studies have recently mapped a gene causing CCM to a segment of the long arm of chromosome 7 (7q). We report herein a genetic linkage analysis conducted on a Korean three generation family with CCM. It’’s first report in Korean family. A Korean family in which one member had undergone surgery for ubtracerebrak hematoma (ICH) and confirmed the CCM, was evaluated. They were examined clinically (n=18) and by magnetic resonance (MR) imaging (n=10). Polymorphic markers (D7S1813, D7S1789) spanning the CCM1 locus on 7q were genotyped by the polymerase chain reaction and analysis of linkage was performed in this family (n=17). Six had multiple lesions on brain MR image, one of them being symptomatic, and five were asymptomatic. Seven remaining members were asymptomatic and refused MR image study. One had died of ICH from presumed CCM. Analysis of the pedigree was consistent with an autosomal dominant pattern of inheritance. All affected patients were linked to CCM1. Linkage to CCM1 can account for inheritance of CCM in this family. They had some striking features with a low clinical penetrance and the presence of multiple lesions. These findings have implications for genetic testing of this disorder and represent an important step toward identification of the gene responsible for the pathogenesis of this disease.
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KEYWORD
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Familial cavernous malformation, Chromosome 7, CCM1 locus, Autosomal domina pattern, Genetic linkage analysis.
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