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Background    MYBPC 3  dysfunctions have been proven to induce dilated cardiomyopathy, hypertrophic cardiomyopathy, and/or left ventricular noncompaction; however, the genotype–phenotype correlation between   MYBPC 3  and restrictive cardiomyopathy ( RCM ) has not been established. The newly developed next‐generation sequencing method is capable of broad genomic  DNA  sequencing with high throughput and can help explore novel correlations between genetic variants and cardiomyopathies.    Methods and Results  A proband from a multigenerational family with 3 live patients and 1 unrelated patient with clinical diagnoses of  RCM  underwent a next‐generation sequencing workflow based on a custom AmpliSeq panel, including 64 candidate pathogenic genes for cardiomyopathies, on the Ion Personal Genome Machine high‐throughput sequencing benchtop instrument. The selected panel contained a total of 64 genes that were reportedly associated with inherited cardiomyopathies. All patients fulfilled strict criteria for  RCM  with clinical characteristics, echocardiography, and/or cardiac magnetic resonance findings. The multigenerational family with 3 adult  RCM  patients carried an identical nonsense   MYBPC 3  mutation, and the unrelated patient carried a missense mutation in the   MYBPC 3  gene. All of these results were confirmed by the Sanger sequencing method.    Conclusions  This study demonstrated that   MYBPC 3  gene mutations, revealed by next‐generation sequencing, were associated with familial and sporadic  RCM  patients. It is suggested that the next‐generation sequencing platform with a selected panel provides a highly efficient approach for molecular diagnosis of hereditary and idiopathic  RCM  and helps build new genotype–phenotype correlations.

journal of the american heart association

Novel Phenotype–Genotype Correlations of Restrictive Cardiomyopathy With Myosin‐Binding Protein C (  MYBPC 3 ) Gene Mutations Tested by Next‐Generation Sequencing