Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy

Med Sci Monit. 2008 Jul;14(7):CR372-4.

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.

Material/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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cardiomyopathy, Hypertrophic, Familial / genetics*
  • Carrier Proteins / genetics*
  • DNA Mutational Analysis
  • Humans
  • Muscle Proteins / genetics*
  • Polymorphism, Genetic
  • Sequence Analysis, DNA*
  • White People / genetics*

Substances

  • Carrier Proteins
  • MYOZ2 protein, human
  • Muscle Proteins