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1 results

  • Ile90Met, a novel mutation in the cardiac troponin T gene for familial hypertrophic cardiomyopathy in a Chinese pedigree

  • CHAO XU, MENG WEI, BIN SU, XUE-WEI HUA, GUO-WEI ZHANG, XIAO-PEI XUE, CUN-MING PAN, RONG LIU, YAN SHENG, ZHI-GANG LU, LI-REN JIN, HUAI-DONG SONG
  • Journal:
    Genetics Research / Volume 90 / Issue 5 / October 2008
    Published online by Cambridge University Press:
    05 December 2008, pp. 445-450
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  • 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.