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01 July 2008

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

Maximilian G PoschABDEF, Laura ThiemannABDE, Pavol TomasovAB, Josef VeselkaABG, Nuno CardimABG, Monica Garcia-CastroAB, Eliecer CotoABG, Andreas PerrotABDE, Christian GeierABDE, Rainer DietzBDEG, Wilhelm HaverkampBDEG, Cemil OzcelikABDEG

Med Sci Monit 2008; 14(7): CR372-374 :: ID: 863666


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 and Method
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.
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.
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.

Keywords: Polymorphism, Genetic, Muscle Proteins - genetics, European Continental Ancestry Group - genetics, DNA Mutational Analysis, Carrier Proteins - genetics, Sequence Analysis, DNA, Cardiomyopathy, Hypertrophic, Familial - genetics

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Medical Science Monitor eISSN: 1643-3750
Medical Science Monitor eISSN: 1643-3750