Deletion in TNNI3 gene is associated with restrictive cardiomyopathy

摘要: In dilated and hypertrophic cardiomyopathies, over ten disease-causing genes have been identified in each entity. contrast, mutations only desmin cardiac troponin T I (TNNI3) shown to cause restrictive cardiomyopathy (RCM). We applied a candidate gene approach novel one nucleotide deletion, resulting frame shift predicted formation of premature stop codon, deletion part exon 7 all 8, truncation significant C-terminal portion TNNI3. Western blot analysis showed approximately 50% reduction total content myocardial tissue. The clinical hallmark was type hemodynamics, congestive heart failure, leading the death patient at age 28.