Novel Mutations in Indian Population with Cardiomyopathies.

Background: Mutations in Myosin Binding Protein C () are one of the most frequent causes of cardiomyopathies in the world, but not much data are available in India.

Methods: We carried out targeted direct sequencing of in 115 hypertrophic (HCM) and 127 dilated (DCM) cardiomyopathies against 197 ethnically matched healthy controls from India.

Results: We detected 34 single nucleotide variations in , of which 19 were novel.

RAF1 mutations in childhood-onset dilated cardiomyopathy.

Dilated cardiomyopathy (DCM) is a highly heterogeneous trait with sarcomeric gene mutations predominating. The cause of a substantial percentage of DCMs remains unknown, and no gene-specific therapy is available. On the basis of resequencing of 513 DCM cases and 1,150 matched controls from various cohorts of distinct ancestry, we discovered rare, functional RAF1 mutations in 3 of the cohorts (South Indian, North Indian and Japanese).

Analysis of mitochondrial genome revealed a rare 50 bp deletion and substitutions in a family with hypertension.

We have sequenced the complete mtDNA of a family with hypertension (HT), type 2 diabetes (T2D) and coronary artery disease (CAD). Our analysis revealed two novel mutations (C3519T, G13204A); of which G13204A replaces valine to isoleucine. In silico analysis of a rare missense mutation (T8597C) showed a deleterious effect.