Key result
Mutations in the COL1A1, COL1A2, COL3A1, and COL5A2 collagen genes segregated independently of the phenotype, indicating they do not cause dominantly inherited mitral valve prolapse.
Why the study?
Are mutations in COL1A1, COL1A2, COL3A1, or COL5A2 genes responsible for dominantly inherited mitral valve prolapse?
Observational
Are mutations in COL1A1, COL1A2, COL3A1, or COL5A2 genes responsible for dominantly inherited mitral valve prolapse?
Genetic analysis indicates that mutations in major mitral valve collagen genes (types I, III, and V) are not the cause of dominantly inherited mitral valve prolapse in the studied families.
Answers are grounded in this paper and cite their sources.
Excludes linkage to COL1A1/3A1/5A2 in familial MVP; leaves open other causative loci.
DNA markers were used to assess the segregation of genes encoding the collagen types that predominate in the mitral valve (types I, III, and V) in two family pedigrees that are phenotypically different but showed dominantly inherited mitral valve prolapse. The inheritance of these markers was compared with the segregation of the phenotype for mitral valve prolapse in both families. In one family it was shown that the COL1A1, COL1A2, COL3A1, and COL5A2 genes segregated independently of the phenotype; in the other family the results for COL1A1, COL1A2, and COL5A2 were similar but analysis at the COL3A1 locus was not possible. These data indicate that in these families mitral valve prolapse does not arise from a defect in one of these collagen genes.
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Henney et al. (1989) conducted an observational in Mitral valve prolapse. Mutations in COL1A1, COL1A2, COL3A1, or COL5A2 collagen genes was evaluated on Segregation of the phenotype for mitral valve prolapse. Mutations in the COL1A1, COL1A2, COL3A1, and COL5A2 collagen genes segregated independently of the phenotype, indicating they do not cause dominantly inherited mitral valve prolapse.
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