[Novel mutations of cardiac troponin T in Chinese patients with hypertrophic cardiomyopathy].
OBJECTIVE
To screen the cardiac troponin T (TNNT2) mutations in Chinese patients with hypertrophic cardiomyopathy (HCM) and to analyze the potential link between the genotype and the phenotype.


METHODS
Clinical features of 100 probands with HCM and some family members were evaluated, 200 unrelated normal subjects served as control. The exons and flanking introns of TNNT2 were amplified with PCR and direct sequencing was used to screen TNNT2 mutations/polymorphisms.


RESULTS
Two novel missense mutations were detected in 2 HCM patients: R92W and R286H. These 2 mutations were not found in 200 non-HCM controls. A five-basepair insertion/deletion polymorphism in intron 3 of TNNT2 was identified in this HCM cohort but was not related to the phenotype.


CONCLUSIONS
Two missense mutations, R92W and R286H, were found in 2/100 patients with HCM, TNNT 2 mutation is relatively low in Chinese patients with HCM.
Department of Cardiology, Peking University People's Hospital, Beijing 100044, China.
Jie
J
Yang
Wen-ling
WL
Liu
Da-yi
DY
Hu
Tian-gang
TG
Zhu
Song-na
SN
Yang
Cui-lan
CL
Li
Lei
L
Li
Yi-hong
YH
Sun
Wen-li
WL
Xie
Jin-gang
JG
Yang
Tian-chang
TC
Li
Hong
H
Bian
Qi-guang
QG
Tong
Jie
J
Xiao
D044466:Asian People; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D016022:Case-Control Studies; D005091:Exons; D005838:Genotype; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic; D020107:Troponin T / Q000235:genetics*
D020107:Troponin T