Ile90Met, a novel mutation in the cardiac troponin T gene 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.
Xu
Chao
C
State Key Laboratory of Medical Genomics, Center of Molecular Medicine, Ruijin Hospital (an Affiliate of Shanghai Jiao Tong University Medical School), Shanghai 200025, China.
Wei
Meng
M
Su
Bin
B
Hua
Xue-Wei
XW
Zhang
Guo-Wei
GW
Xue
Xiao-Pei
XP
Pan
Cun-Ming
CM
Liu
Rong
R
Sheng
Yan
Y
Lu
Zhi-Gang
ZG
Jin
Li-Ren
LR
Song
Huai-Dong
HD
D000293:Adolescent; D000328:Adult; D000368:Aged; D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics*; D002648:Child; D002681:China; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D008875:Middle Aged; D009206:Myocardium / Q000378:metabolism; D010375:Pedigree; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D020107:Troponin T / Q000235:genetics*; D055815:Young Adult
D020107:Troponin T