期刊
ROMANIAN BIOTECHNOLOGICAL LETTERS
卷 24, 期 1, 页码 91-99出版社
ARS DOCENDI
DOI: 10.25083/rbl/24.1/91.99
关键词
Deletion mapping; MYBPC3 gene; Hypertrophic cardiomyopathy; NGS; Bioinformatics
资金
- CREDO Project [49182]
- National Authority of Scientific Research and Innovation, on behalf of the Romanian Ministry of European Funds -through the Sectoral Operational Program Increasing of Economic Competitiveness, Priority Axis 2, Operation 2.2.1 [SOP IEC -A2-0.2.2.1-2013-1]
- European Regional Development Fund
Hypertrophic cardiomyopathy (HCM) has a special place among genetic cardiomyopathies, being one of the main causes of sudden death in young patients, mainly in performance athletes. Herein we report a deletion in the myosin binding protein C (MYBPC3) gene identified in a female patient affected by HCM. The mutation was initially pinpointed in an NGS screening, then it was confirmed by Sanger sequencing with original primers. Bioinformatics analysis revealed a deletion previously reported as c.2441_2443delAGA, but the precise breakpoints mapping appears to be difficult to conclude. Since alternative three nucleotides deletions unambiguously result in a net Lysine missing from a specific poly-Lysine protein domain, the absolute mapping of the mutation is yet elusive, an aspect which should be considered when reporting the genomic coordinates of this deletion.
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