| description |
The population of this study consisted of 5 affected family members and 5 unaffected family members with a genealogy of Dilated cardiomyopathy (DCM), as well as 3 unrelated controls. In the whole-exome analysis, we evaluated 5 affected and 1 unaffected members of the diseased family and 2 controls outside of that family in one sequence run. We picked up effectively 107 nonsynonymous mutations by whole-exome resequencing with low coverage and narrowed down the candidate genes by using a single-nucleotide polymorphism database and prioritizing the significance of amino acid substitutions. By confirming the mutation using direct nucleotide sequencing, we determined that LMNA was the responsible gene. none provided |