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Category:Sri Lankan lawIdentification of mutations in a novel familial hypertrophic cardiomyopathy mutation in the cardiac myosin binding protein-C gene (MYBPC3) in Brazilian family.
Hypertrophic cardiomyopathy (HCM) is the most prevalent heritable heart condition worldwide. It is characterized by left ventricular hypertrophy and often shows severe and sudden death. The HCM phenotype is a result of sarcomere-related alterations in the myocardium, where mutations in cardiac sarcomeric proteins cause the most common disease in this family. In this study, we describe a multigenerational Brazilian family with two affected brothers, presenting with HCM that was suspected to be the result of a sarcomeric mutation. Since the clinical presentation was difficult to distinguish from other disorders, we sequenced the coding region and intron-exon boundaries of the cardiac myosin binding protein-C gene (MYBPC3) and screened for mutations. The proband presented with a hypertrophic and dilated cardiomyopathy in his fourth decade of life. The younger brother was diagnosed with hypertrophic cardiomyopathy at the age of 16 and is currently in his eighth decade of life with normal cardiac findings. Sequencing of the cardiac myosin binding protein-C gene revealed a novel mutation in exon 3. This mutation is a missense change (G203V) and its effect on the myosin binding protein C protein function is predicted to be deleterious by SIFT, PROVEAN and PolyPhen-2. Bioinformatics analysis of the mutation and evolutionary conservation strongly support the prediction of the deleterious effect of this mutation on the cardiac ac619d1d87
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