title: Gene mutations in adult Japanese patients with dilated cardiomyopathy.
abstract: 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.
authors.affiliation: Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University, Japan. shimizu@med.kanazawa-u.ac.jp
authors.forename: Masami
authors.initials: M
authors.lastname: Shimizu
authors.forename: Hidekazu
authors.initials: H
authors.lastname: Ino
authors.forename: Toshihiko
authors.initials: T
authors.lastname: Yasuda
authors.forename: Noboru
authors.initials: N
authors.lastname: Fujino
authors.forename: Katsuharu
authors.initials: K
authors.lastname: Uchiyama
authors.forename: Tomohito
authors.initials: T
authors.lastname: Mabuchi
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Konno
authors.forename: Tomoya
authors.initials: T
authors.lastname: Kaneda
authors.forename: Takashi
authors.initials: T
authors.lastname: Fujita
authors.forename: Eiichi
authors.initials: E
authors.lastname: Masuta
authors.forename: Masahiro
authors.initials: M
authors.lastname: Katoh
authors.forename: Akira
authors.initials: A
authors.lastname: Funada
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Mabuchi
mesh_terms: 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
chemical_list: D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D016189:Dystrophin; D000099163:Myosin Binding Protein C