Abstrakt
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 mutaitons in MYOZ2 were reported as a cause for HCM.
To assess the prevalence of MYOZ2 mutations among Europena HCM patients, coding exons weree analyzed for genetic variants in 438 patients. Material/Methods: Four hundred thity-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 caused of familial HCM.