Key result
Novel cardiac troponin T Ile90Met mutation links to familial HCM in a large Chinese pedigree.
Why the study?
The genetic cause of familial hypertrophic cardiomyopathy in a large multi-generational Chinese family was unknown.
Observational (n=89)
Identifies a novel Ile90Met mutation in the cTnT gene as a causative agent for familial hypertrophic cardiomyopathy in a Chinese pedigree.
To identify the disease-causing gene for a large multi-generational Chinese family affected by familial hypertrophic cardiomyopathy (FHCM), genome-wide screening was carried out in a Chinese family with FHCM using micro-satellite markers, and linkage analysis was performed using the MLINK program. The disease locus was mapped to 1q32 in this family. Screening for a mutation in the cardiac troponin T (cTnT) gene was performed by a PCR and sequencing was done with an ABI Prism 3700 sequencer. A novel C-->G transition located in the ninth exon of the cTnT gene, leading to a predicted amino acid residue change from Ile to Met at codon 90, was identified in all individuals with hypertrophic cardiomyopathy (HCM). The results presented here strongly suggest that Ile90Met, a novel mutation in the cTnT gene, is causative agent of HCM in this family.
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Xu et al. (2008) conducted an observational in Familial hypertrophic cardiomyopathy (FHCM) (n=89). Ile90Met mutation in the cTnT gene vs. Unaffected family members without the mutation was evaluated on Genetic linkage to familial hypertrophic cardiomyopathy (LOD score 3.45). A novel Ile90Met missense mutation in the cardiac troponin T gene was identified as the causative agent for familial hypertrophic cardiomyopathy in a large Chinese pedigree, with a maximum LOD score of 3.45.
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