TNNI3 gene mutation as a cause of cardiomyopathy among Iranian patients

Introduction: Cardiomyopathy is common cause of cardiac death that is categorized to different types including HCM, DCM, LVNC and RCM. Over 20 genes detected to cause HCM; most of them are responsible to code sarcomeric proteins. More than 40 genes encoding cytoskeletal sarcomeric proteins, Z-disc have been described to cause familial DCM. The genetics of RCM is similar to HCM and sometimes this overlapping cause mixed HCM/DCM phenotype. Here, we study TNNI3 mutations among Iranian patients with cardiomyopathy.Materials & Methods: Total number of 30 patients affected with HCM, DCM and RCM were recruited in this study. Clinical data and EKG information were documented. All exons and introns of TNNI3 gene were amplified and sequenced. Insilico analyses were applied for detection of novel variants.Results: From the total number of 30, 13 patients were selected with dilated cardiomyopathy, 13 hypertrophic cardiomyopathies and 4 restrictive cardiomyopathies. After insilico analysis, two pathogenic variants were observed. Both were categorized as disease causing in Mutation taster (Free web-based application) and CADD score were calculated 38 and 12.60(CADD mutation version 1.4).Conclusion & Discussion: TNNI3 gene has been examined for the first time in a group of Iranian population in this study. Based on the Obtained information, TNNI3 probably plays an important role in the incidence of cardiomyopathy. Few patients were recruited in this study; therefore, it is suggested that this study may be carry out on large populations

کلیدواژه ها:

cardiomyopathy ، genetics ، TNNI3 gene