[A novel missense mutation, K124N, in the troponin T gene of Chinese populations with hypertrophic cardiomyopathy].
OBJECTIVE
To study the cardiac troponin T (TNNT2) gene mutation in Chinese patients with hypertrophic cardiomyopathy (HCM) and to analyze the correlation between the genotype and phenotype.


METHODS
Specimens of peripheral blood were collected from 71 unrelated Chinese probands with HCM, aged 40 +/- 18. The genome DNA was extracted. Single-strand conformation polymorphism gel analysis of the polymerase chain reaction-amplified products was conducted to search for mutations in the exons 8, 9, 10, 11, and 16 of the TNNT2 gene. Relevant clinical data were collected. One hundred normal persons, aged 44 +/- 14, were used as controls.


RESULTS
A missense mutation, K124N, in the exon 9 of the TNNT2 gene was identified in a 41-year-old female patient with HCM and failed to be detected in the 100 normal controls, which suggested the disease-causing mutation. The patient began to have the symptoms of chest distress and palpitation since the age of 38, presented moderate hypertrophy of the intraventricular septum, and did not have a family history of sudden cardiac death.


CONCLUSIONS
A novel missense mutation of troponin T gene has been identified. Mutation in tail part of cardiac troponin T, essential for it's binding function, causes the disease of HCM. Correlative analysis confirms the genetic heterogeneity of the disease.
An
Feng-shuang
FS
Department of Cardiology, Qilu Hospital, Shandong University, Jinan 250012, China.
Zhang
Yun
Y
Li
Da-qing
DQ
Yang
Xing-sheng
XS
Li
Li
L
Zhang
Cheng
C
Yan
Mo-lei
ML
Wang
Yan
Y
An
Gui-peng
GP
D000328:Adult; D001483:Base Sequence; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics* / Q000401:mortality; D005260:Female; D005838:Genotype; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000235:genetics; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA; D020107:Troponin T / Q000235:genetics*
D020107:Troponin T