Troponin I mutation associated with Restrictive Cardiomyopathy with mild hypertrophy
Description
In our study, TNNI3 gene exons were sequenced in terms to analyse the association between RCM and TNNI3 gene mutation in Indian Patients. We found a novel variant associated with severe form of restrictive cardiomyopathy with mild hypertrophy. This study suggests that the mutation in TNNI3 gene may confer phenotypic pathogenecity. The variants in hotspot region of TNNI3 gene mutation has been found to be associated with wide range of cardiomyopathy phenotype i.e. form restrictive cardiomyopathy to restrictive cardiomyopathy with hypertrophy to pure hypertrophic cardiomyopathy.
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We sequenced all eight exons of TNNI3 gene with the help of in-house designed primers. After sequencing data was analysed with the help of available open software. When variant identified, were validated by sequencing in unaffected family members and 100 controls. To find the pathogenecity of the variant, different Iin-silico assessment was done with the help of SIFT, Polyphen-2, and Mutation taster.