Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy

Abstract Hypertrophic cardiomyopathy (HCM), a common and clinically heterogeneous disease characterized by unexplained ventricular myocardial hypertrophy and a high risk of sudden cardiac death, is mostly caused by mutations in MYH7 and MYBPC3 genes. As 70% of MYBPC3 mutations introduce a premature ...

Full description

Saved in:
Bibliographic Details
Published in:European journal of medical genetics 2012-03, Vol.55 (3), p.163-166
Main Authors: Chanavat, V, Seronde, M.F, Bouvagnet, P, Chevalier, P, Rousson, R, Millat, G
Format: Article
Language:English
Subjects:
Cardiomyopathy, Hypertrophic - genetics
Carrier Proteins - genetics
Gene Deletion
Gene Rearrangement
Humans
Hypertrophic cardiomyopathy
Male
Medical Education
Middle Aged
MLPA
Molecular diagnosis
MYBPC3
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract Hypertrophic cardiomyopathy (HCM), a common and clinically heterogeneous disease characterized by unexplained ventricular myocardial hypertrophy and a high risk of sudden cardiac death, is mostly caused by mutations in MYH7 and MYBPC3 genes. As 70% of MYBPC3 mutations introduce a premature termination codon, the purpose of the current study was to report the prevalence of large MYBPC3 rearrangements. A large French cohort of 100 HCM patients, for whom no putatively causative point mutations were identified previously in the most prevalent HCM-causing genes, was investigated using an MLPA methodology. One HCM patient was identified to carry a large MYBPC3 rearrangement (
ISSN:1769-7212
1878-0849
DOI:10.1016/j.ejmg.2012.01.002