Cardiac troponin I gene mutation (Asp127Tyr) in a Chinese patient with hypertrophic cardiomyopathy

OBJECTIVE: To observe the disease-causing gene mutation in Chinese patients with hypertrophic cardiomyopathy and to analyze the correlation between the genotype and the phenotype. METHODS: Specimens of peripheral blood were collected and the genome DNA was extracted in 65 unrelated patients with hypertrophic cardiomyopathy and 60 normal controls. The exon 7 and 8 of cardiac troponin I gene were screened with PCR and direct sequencing technique. RESULTS: A missense mutation in the exon 7 of the cardiac troponin I gene was identified in a 40-year-old male patient with hypertrophic cardiomyopathy (Asp127Tyr) which was absent in the controls. CONCLUSION: A novel missense mutation of cardiac troponin I was identified in a patient with hypertrophic cardiomyopathy, this mutation might be the disease-causing gene mutation in this Chinese patient.