Double heterozygosity of novel variants found in patients with severe clinical phenotype of cardiovascular disorders
Cardiovascular diseases (CVD) comprise a broad range of disorders of the heart and blood vessels. In this study, we used next-generation sequencing with a panel that includes 174 genes connected to CVD in order to investigate the possible genetic causes that underline some clinical phenotypes and th...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | English |
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Taylor & Francis Group
2018-05-01
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| Series: | Biotechnology & Biotechnological Equipment |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/13102818.2018.1433064 |
| _version_ | 1819169072544219136 |
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| author | Slavica Josifovska Radoslava Vazharova Lubomir Balabanski Maxim Malinov Anna Kaneva Sasho Panov Savina Hadjidekova Draga Toncheva |
| author_facet | Slavica Josifovska Radoslava Vazharova Lubomir Balabanski Maxim Malinov Anna Kaneva Sasho Panov Savina Hadjidekova Draga Toncheva |
| author_sort | Slavica Josifovska |
| collection | DOAJ |
| description | Cardiovascular diseases (CVD) comprise a broad range of disorders of the heart and blood vessels. In this study, we used next-generation sequencing with a panel that includes 174 genes connected to CVD in order to investigate the possible genetic causes that underline some clinical phenotypes and their severity. Two patients were found with double heterozygosity, each carrying one new variant. One patient with supravalvular aortic stenosis has novel ELN: c.890-1G>A and a known variant SCN5A: p.Gly9Val in a heterozygous state, whereas another patient with hypertrophic cardiomyopathy has a heterozygous novel CACNA1C: p.Arg514Gly and a known SCN5A: p.Arg800His variant. This method proved to be useful in determining the mutation status in correlation with the severity of the clinical phenotype and can further clarify cases where the clinical status could not be explained only by single gene mutation detected by standard methods. |
| first_indexed | 2024-12-22T19:13:41Z |
| format | Article |
| id | doaj.art-3e7e8e4d5f2047fa854a9ee694cc8df0 |
| institution | Directory Open Access Journal |
| issn | 1310-2818 1314-3530 |
| language | English |
| last_indexed | 2024-12-22T19:13:41Z |
| publishDate | 2018-05-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Biotechnology & Biotechnological Equipment |
| spelling | doaj.art-3e7e8e4d5f2047fa854a9ee694cc8df02022-12-21T18:15:35ZengTaylor & Francis GroupBiotechnology & Biotechnological Equipment1310-28181314-35302018-05-0132367968510.1080/13102818.2018.14330641433064Double heterozygosity of novel variants found in patients with severe clinical phenotype of cardiovascular disordersSlavica Josifovska0Radoslava Vazharova1Lubomir Balabanski2Maxim Malinov3Anna Kaneva4Sasho Panov5Savina Hadjidekova6Draga Toncheva7“Ss.Cyril and Methodius” UniversityGenome Centre, GARH “Malinov”Genome Centre, GARH “Malinov”Genome Centre, GARH “Malinov”Department of Pediatric Cardiology, National Heart Hospital“Ss.Cyril and Methodius” UniversityMedical University of SofiaMedical University of SofiaCardiovascular diseases (CVD) comprise a broad range of disorders of the heart and blood vessels. In this study, we used next-generation sequencing with a panel that includes 174 genes connected to CVD in order to investigate the possible genetic causes that underline some clinical phenotypes and their severity. Two patients were found with double heterozygosity, each carrying one new variant. One patient with supravalvular aortic stenosis has novel ELN: c.890-1G>A and a known variant SCN5A: p.Gly9Val in a heterozygous state, whereas another patient with hypertrophic cardiomyopathy has a heterozygous novel CACNA1C: p.Arg514Gly and a known SCN5A: p.Arg800His variant. This method proved to be useful in determining the mutation status in correlation with the severity of the clinical phenotype and can further clarify cases where the clinical status could not be explained only by single gene mutation detected by standard methods.http://dx.doi.org/10.1080/13102818.2018.1433064Cardiovascular diseasenext-generation sequencingdouble heterozygositySCN5AELNCACNA1C |
| spellingShingle | Slavica Josifovska Radoslava Vazharova Lubomir Balabanski Maxim Malinov Anna Kaneva Sasho Panov Savina Hadjidekova Draga Toncheva Double heterozygosity of novel variants found in patients with severe clinical phenotype of cardiovascular disorders Biotechnology & Biotechnological Equipment Cardiovascular disease next-generation sequencing double heterozygosity SCN5A ELN CACNA1C |
| title | Double heterozygosity of novel variants found in patients with severe clinical phenotype of cardiovascular disorders |
| title_full | Double heterozygosity of novel variants found in patients with severe clinical phenotype of cardiovascular disorders |
| title_fullStr | Double heterozygosity of novel variants found in patients with severe clinical phenotype of cardiovascular disorders |
| title_full_unstemmed | Double heterozygosity of novel variants found in patients with severe clinical phenotype of cardiovascular disorders |
| title_short | Double heterozygosity of novel variants found in patients with severe clinical phenotype of cardiovascular disorders |
| title_sort | double heterozygosity of novel variants found in patients with severe clinical phenotype of cardiovascular disorders |
| topic | Cardiovascular disease next-generation sequencing double heterozygosity SCN5A ELN CACNA1C |
| url | http://dx.doi.org/10.1080/13102818.2018.1433064 |
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