title: Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy.
abstract: BACKGROUND
  Familial hypertrophic cardiomyopathy (HCM) is an allelic cardiac disorder characterized by increased ventricular wall mass and sudden cardiac death. A variety of dominant single-gene mutations in sarcomeric genes have been identified, indicating a highly heterogeneous genetic etiology. MYOZ2 encodes for sarcomeric calsarcin-1 located in the myocardial z-disc, a focal point of HCM disease genes. Very recently mutations in MYOZ2 were reported as a cause for HCM. To assess the prevalence of MYOZ2 mutations among European HCM patients, coding exons weree analyzed for genetic variants in 438 patients.
  
  
  METHODS
  Four hundred thirty-eight patients with HCM in four European cardiovascular centers were recruited. The coding region of MYOZ2 was directly sequenced in all the HCM subjects.
  
  
  RESULTS
  Two non-synonymous polymorphisms in exon 2 (rs17851524) and exon 5 (rs7687613) of MYOZ2 were identified in eight and twenty-two patients, respectively. However, no disease-causing mutations could be identified in this large cohort of HCM patients.
  
  
  CONCLUSIONS
  Although a large cohort of more than 400 patients with familial HCM was screened, a disease-associated mutation in MYOZ2 was not identified. When these results are combined with previous reports, it can be concluded that MYOZ2 mutations are rare causes of familial HCM.
authors.affiliation: Department of Cardiology Charite, Universitatsmedizin Berlin, Campus Virchow, Berlin, Germany.
authors.forename: Maximilian G
authors.initials: MG
authors.lastname: Posch
authors.forename: Laura
authors.initials: L
authors.lastname: Thiemann
authors.forename: Pavol
authors.initials: P
authors.lastname: Tomasov
authors.forename: Josef
authors.initials: J
authors.lastname: Veselka
authors.forename: Nuno
authors.initials: N
authors.lastname: Cardim
authors.forename: Monica
authors.initials: M
authors.lastname: Garcia-Castro
authors.forename: Eliecer
authors.initials: E
authors.lastname: Coto
authors.forename: Andreas
authors.initials: A
authors.lastname: Perrot
authors.forename: Christian
authors.initials: C
authors.lastname: Geier
authors.forename: Rainer
authors.initials: R
authors.lastname: Dietz
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Haverkamp
authors.forename: Cemil
authors.initials: C
authors.lastname: Ozcelik
mesh_terms: D024741:Cardiomyopathy, Hypertrophic, Familial / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D009124:Muscle Proteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA; D044465:White People / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; C419779:MYOZ2 protein, human; D009124:Muscle Proteins