DCM PROJECT

The goal of this website is to provide relevant information about the genetics of DCM in families while serving all study participants from the DCM Discovery and DCM Precision Medicine studies. We also inform health care professionals with our recommendations to manage genetic DCM and provide an update on DCM research... Exome sequencing in large FDC families. Our initial focus in the 1990s was large FDC families (meaning several affected subjects in one extended family), extremely helpful at linkage analysis and gene mapping for novel gene discovery. Recent developments in sequencing technology have now made it possible to sequence all genes that encode proteins simultaneously, termed exome sequencing. We used both linkage analysis and exome sequencing of 48 individuals with DCM from 17 families to analyze TTN truncating mutations (Norton, et al, Circ Cardiovasc Genetics 2013;6:144-53). We identified six TTN truncating variants in 7 families. By linkage analysis the TTN region fell..

Also known as: Dilated Cardiomyopathy Research Project