title: Ile90Met, a novel mutation in the cardiac troponin T gene for familial hypertrophic cardiomyopathy in a Chinese pedigree.
abstract: 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.
authors.affiliation: State Key Laboratory of Medical Genomics, Center of Molecular Medicine, Ruijin Hospital (an Affiliate of Shanghai Jiao Tong University Medical School), Shanghai 200025, China.
authors.forename: Chao
authors.initials: C
authors.lastname: Xu
authors.forename: Meng
authors.initials: M
authors.lastname: Wei
authors.forename: Bin
authors.initials: B
authors.lastname: Su
authors.forename: Xue-Wei
authors.initials: XW
authors.lastname: Hua
authors.forename: Guo-Wei
authors.initials: GW
authors.lastname: Zhang
authors.forename: Xiao-Pei
authors.initials: XP
authors.lastname: Xue
authors.forename: Cun-Ming
authors.initials: CM
authors.lastname: Pan
authors.forename: Rong
authors.initials: R
authors.lastname: Liu
authors.forename: Yan
authors.initials: Y
authors.lastname: Sheng
authors.forename: Zhi-Gang
authors.initials: ZG
authors.lastname: Lu
authors.forename: Li-Ren
authors.initials: LR
authors.lastname: Jin
authors.forename: Huai-Dong
authors.initials: HD
authors.lastname: Song
mesh_terms: 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
chemical_list: D020107:Troponin T