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- W2066194003 abstract "Background: Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous disorder, in which 90% of patients have mutations in the myosin-binding protein C (MYBPC3), myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes, when a genetic cause is identified. In up to 50% of cases nomutation is identified.While mutations in other genes could explain such cases, current mutation detection methods overlook large deletions andduplications,whichmaycontribute significantly to the mutational load in known causal genes. Aim: This study sought to investigate the role of large deletions and duplications in the MYBPC3 and TNNT2 genes in HCM. Methods: In 109 patients with HCM, multiple ligationdependent probe amplification (MLPA) DNA analysis of theMYBPC3 gene was performed. A subgroup of patients (n= 96)were also analysed for theTNNT2 gene.MLPAprofiles suggesting a deletion were further investigated with PCR amplification and DNA sequencing to characterise deletion breakpoints and genotype family members. Results: One proband (1%) was found to have a 3 base pair deletion in exon 29 of theMYBPC3 gene, resulting in a deletion of a valine residue. The proband is a 20-year-old female who has severe HCM with a septal wall thickness of 35mm, and has an implantable defibrillator for primary prevention.There isno familyhistoryofHCM.MLPAanalysis did not identify any alterations in the TNNT2 gene. Conclusions: While small gene deletions may account for a proportion of causes of HCM, large deletions and duplications do not appear to play a role in the pathogenesis of HCM." @default.
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- W2066194003 date "2009-01-01" @default.
- W2066194003 modified "2023-10-02" @default.
- W2066194003 title "The Role of Large Gene Deletions and Duplications in Patients with Hypertrophic Cardiomyopathy" @default.
- W2066194003 doi "https://doi.org/10.1016/j.hlc.2009.05.185" @default.
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