Mutational analysis of the disease causing genes in sudden cardiac death diagnosed as cardiomyopathy

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Comprehensive screening of ANKRD1 (cardiac ankyrin repeat protein), TCAP (telethonin) and TTN (titin) was performed in consented autopsy cases diagnosed as cardiomyopathies (CMs), in order to evaluate the prevalence of gene mutations in sudden cardiac death caused by CMs. A total of 26 mutations including 3 missense mutations was detected in DCM cases. Our results suggested that the mutations might alter interaction of the Z-disc and N2A components and caused DCM. It was indicated that genetic analysis of these three genes was useful to decide diagnosis of CMs for forensic autopsy cases.