Gene mutations in adult Japanese patients with dilated cardiomyopathy.
BACKGROUND
Some patients with dilated cardiomyopathy (DCM) have mutations of the genes that encode sarcomeric or cytoskeletal proteins of cardiomyocytes, but the prevalence of these mutations in Japan remains unclear.


RESULTS
A group of 99 unrelated adult patients with DCM (familial n=27, sporadic n=72) were screened for the following genes: cardiac beta-myosin heavy chain, cardiac myosin-binding protein C (MYBPC3), regulatory and essential myosin light chains, alpha cardiac actin, alpha tropomyosin, cardiac troponin T, cardiac troponin I, cardiac troponin C, dystrophin, and lamin A/C. A mutation (R820Q) in MYBPC3 was found in an aged patient. In addition, dystrophin mutations were identified in 3 male patients (2 with exon 45-48 deletion and 1 with exon 48-52 deletion). The prevalence of dystrophin mutations in male patients with DCM was 4.4% (3 of 68). No mutations involving amino acid changes were identified in the other genes.


CONCLUSIONS
Although cases of adult patients with DCM caused by mutations of the genes encoding sarcomeric or cytoskeletal proteins of cardiomyocytes are infrequent in Japan, it may be advisable to screen older DCM patients for MYBPC3 mutations, and male patients with familial DCM for dystrophin mutations.
Shimizu
Masami
M
Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University, Japan. shimizu@med.kanazawa-u.ac.jp
Ino
Hidekazu
H
Yasuda
Toshihiko
T
Fujino
Noboru
N
Uchiyama
Katsuharu
K
Mabuchi
Tomohito
T
Konno
Tetsuo
T
Kaneda
Tomoya
T
Fujita
Takashi
T
Masuta
Eiichi
E
Katoh
Masahiro
M
Funada
Akira
A
Mabuchi
Hiroshi
H
D000368:Aged; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics; D003645:Death, Sudden; D016189:Dystrophin / Q000235:genetics; D004562:Electrocardiography; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D017720:Molecular Epidemiology; D009154:Mutation; D012518:Sarcomeres / Q000235:genetics; D000099163:Myosin Binding Protein C
D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D016189:Dystrophin; D000099163:Myosin Binding Protein C