Key result
Genome-wide linkage analysis identifies a novel chromosome 7 locus linked to inherited cardiomyopathy.
Why the study?
Mutations in sarcomere proteins do not account for approximately 40% of phenotypic hypertrophic cardiomyopathy cases, indicating other genetic causes exist.
Population
One kindred of 32 individuals across 4 generations with inherited cardiomyopathy and atypical HCM features
Comparison
Genome-wide linkage analysis and direct DNA sequencing to identify genetic mutations
Design
Observational genome-wide linkage analysis and sequencing study
Authors
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Broadens genetic heterogeneity of inherited cardiomyopathy beyond sarcomere genes; leaves open the causative variant and clinical translation.
Observational (n=32)
Effect estimate: LOD score 4.11
The identification of a novel genetic locus on chromosome 7 for inherited cardiomyopathy demonstrates that molecular pathways leading to cardiac hypertrophy extend beyond sarcomere mutations.
Song et al. (2006) conducted an observational in Inherited cardiomyopathy (n=32). Genetic locus on chromosome 7 (7p12.1-7q21) was evaluated on Linkage to a novel locus (LOD score 4.11). Genome-wide linkage analysis in a 32-member kindred with inherited cardiomyopathy identified a novel disease locus on chromosome 7 (7p12.1-7q21) with a maximum LOD score of 4.11.
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