DES GENE MUTATION IN A FAMILY OF PROBAND WITH MYOFIBRILLARY MYOPATHY AND NON-COMPACTION CARDIOMYOPATHY, RESULTED IN CARDIAC TRANSPLANTATION
Aim. To perform clinical and instrumental examination and genetic testing using the method of exome sequencing of proband and his relatives of 1 and 2 degrees of kinship with myofibrillary myopathy and non-compaction cardiomyopathy.Material and methods. The object of the study: proband with non-comp...
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| Language: | Russian |
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«FIRMA «SILICEA» LLC
2017-11-01
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| Series: | Российский кардиологический журнал |
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| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/2532 |
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| author | R. P. Myasnikov N. V. Shcherbakova О. V. Kulikova А. N. Meshkov M. S. Kharlap А. V. Kiseleva А. А. Zharikova Е. L. Dadali N. A. Semenova S. N. Koretsky О. V. Blagova Е. А. Mershina V. Е. Sinitsyn О. М. Drapkina S. А. Boytsov |
| author_facet | R. P. Myasnikov N. V. Shcherbakova О. V. Kulikova А. N. Meshkov M. S. Kharlap А. V. Kiseleva А. А. Zharikova Е. L. Dadali N. A. Semenova S. N. Koretsky О. V. Blagova Е. А. Mershina V. Е. Sinitsyn О. М. Drapkina S. А. Boytsov |
| author_sort | R. P. Myasnikov |
| collection | DOAJ |
| description | Aim. To perform clinical and instrumental examination and genetic testing using the method of exome sequencing of proband and his relatives of 1 and 2 degrees of kinship with myofibrillary myopathy and non-compaction cardiomyopathy.Material and methods. The object of the study: proband with non-compaction cardiomyopathy and his relatives of 1 and 2 degrees of kinship. All participants underwent clinical and instrumental examination including: blood collection for genetic testing, complete cell blood count, biochemical blood assay (levels of total protein, alanine-aminotransferase, aspartate aminotransferase, lactate dehydrogenase, bilirubin, urea, creatinine, uric acid, potassium, sodium, creatinekinase, MB-fraction of creatinekinase, brain natriuretic peptides, C-reactive protein), coagulation profile (partial thromboplastin time, thrombin clotting time, levels of antithrombin III, INR, D-dimer), ECG, Holter ECG monitoring, cardiac MRI). The non-compaction myocardium was diagnosed according to echocardiographic criteria of non-compaction myocardium. Sequencing was performed with genomic sequenator Illumina HiSeq 1500 (Illumina, USA). Genomic libraries were prepared with Kapa Library Amplification Kit (Roche, Switzerland), NimbleGen SeqCap EZ Exome v3.0 (Roche, Switzerland) were used for exome enrichment. Then bioinformatic analysis was done; variants in 188 genes associated with any cardiomyopathy development were prioritized and assessed for pathogenenity.Results. Proband was diagnosed with myofibrillar myopathy and familial form of non-compaction cardiomyopathy (according to MRI and echocardiographic criteria). Novel probably pathogenic variant was found in DES gene — c.330_338del. Other pathogenic and probably pathogenic variants were not found. Conclusion. Novel variant of DES gene c.330_338del is probably responsible for the development of myofibrillar myopathy and non-compaction cardiomyopathy. |
| first_indexed | 2024-04-09T20:48:18Z |
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| id | doaj.art-e4bad4198f9d42bf8ea224afce89bddf |
| institution | Directory Open Access Journal |
| issn | 1560-4071 2618-7620 |
| language | Russian |
| last_indexed | 2024-04-09T20:48:18Z |
| publishDate | 2017-11-01 |
| publisher | «FIRMA «SILICEA» LLC |
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| series | Российский кардиологический журнал |
| spelling | doaj.art-e4bad4198f9d42bf8ea224afce89bddf2023-03-29T21:23:29Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202017-11-0101091610.15829/1560-4071-2017-10-9-162259DES GENE MUTATION IN A FAMILY OF PROBAND WITH MYOFIBRILLARY MYOPATHY AND NON-COMPACTION CARDIOMYOPATHY, RESULTED IN CARDIAC TRANSPLANTATIONR. P. Myasnikov0N. V. Shcherbakova1О. V. Kulikova2А. N. Meshkov3M. S. Kharlap4А. V. Kiseleva5А. А. Zharikova6Е. L. Dadali7N. A. Semenova8S. N. Koretsky9О. V. Blagova10Е. А. Mershina11V. Е. Sinitsyn12О. М. Drapkina13S. А. Boytsov14National Research Center for Preventive Medicine of the Ministry of HealthNational Research Center for Preventive Medicine of the Ministry of HealthNational Research Center for Preventive Medicine of the Ministry of HealthNational Research Center for Preventive Medicine of the Ministry of HealthNational Research Center for Preventive Medicine of the Ministry of HealthNational Research Center for Preventive Medicine of the Ministry of HealthNational Research Center for Preventive Medicine of the Ministry of HealthMedical And Genetic Scientific CenterMedical And Genetic Scientific CenterNational Research Center for Preventive Medicine of the Ministry of HealthI.M. Sechenov First Moscow State Medical University of the Ministry of HealthTreatment and Rehabilitation Center of the Ministry of HealthTreatment and Rehabilitation Center of the Ministry of HealthNational Research Center for Preventive Medicine of the Ministry of HealthNational Medical Research Center of Cardiology of the Ministry of HealthAim. To perform clinical and instrumental examination and genetic testing using the method of exome sequencing of proband and his relatives of 1 and 2 degrees of kinship with myofibrillary myopathy and non-compaction cardiomyopathy.Material and methods. The object of the study: proband with non-compaction cardiomyopathy and his relatives of 1 and 2 degrees of kinship. All participants underwent clinical and instrumental examination including: blood collection for genetic testing, complete cell blood count, biochemical blood assay (levels of total protein, alanine-aminotransferase, aspartate aminotransferase, lactate dehydrogenase, bilirubin, urea, creatinine, uric acid, potassium, sodium, creatinekinase, MB-fraction of creatinekinase, brain natriuretic peptides, C-reactive protein), coagulation profile (partial thromboplastin time, thrombin clotting time, levels of antithrombin III, INR, D-dimer), ECG, Holter ECG monitoring, cardiac MRI). The non-compaction myocardium was diagnosed according to echocardiographic criteria of non-compaction myocardium. Sequencing was performed with genomic sequenator Illumina HiSeq 1500 (Illumina, USA). Genomic libraries were prepared with Kapa Library Amplification Kit (Roche, Switzerland), NimbleGen SeqCap EZ Exome v3.0 (Roche, Switzerland) were used for exome enrichment. Then bioinformatic analysis was done; variants in 188 genes associated with any cardiomyopathy development were prioritized and assessed for pathogenenity.Results. Proband was diagnosed with myofibrillar myopathy and familial form of non-compaction cardiomyopathy (according to MRI and echocardiographic criteria). Novel probably pathogenic variant was found in DES gene — c.330_338del. Other pathogenic and probably pathogenic variants were not found. Conclusion. Novel variant of DES gene c.330_338del is probably responsible for the development of myofibrillar myopathy and non-compaction cardiomyopathy.https://russjcardiol.elpub.ru/jour/article/view/2532desexome sequencingleft ventricular non-compaction cardiomyopathycardiomyopathymyofibrillar myopathycardiac transplantationskeletal myopathyheart failuresudden cardiac death |
| spellingShingle | R. P. Myasnikov N. V. Shcherbakova О. V. Kulikova А. N. Meshkov M. S. Kharlap А. V. Kiseleva А. А. Zharikova Е. L. Dadali N. A. Semenova S. N. Koretsky О. V. Blagova Е. А. Mershina V. Е. Sinitsyn О. М. Drapkina S. А. Boytsov DES GENE MUTATION IN A FAMILY OF PROBAND WITH MYOFIBRILLARY MYOPATHY AND NON-COMPACTION CARDIOMYOPATHY, RESULTED IN CARDIAC TRANSPLANTATION Российский кардиологический журнал des exome sequencing left ventricular non-compaction cardiomyopathy cardiomyopathy myofibrillar myopathy cardiac transplantation skeletal myopathy heart failure sudden cardiac death |
| title | DES GENE MUTATION IN A FAMILY OF PROBAND WITH MYOFIBRILLARY MYOPATHY AND NON-COMPACTION CARDIOMYOPATHY, RESULTED IN CARDIAC TRANSPLANTATION |
| title_full | DES GENE MUTATION IN A FAMILY OF PROBAND WITH MYOFIBRILLARY MYOPATHY AND NON-COMPACTION CARDIOMYOPATHY, RESULTED IN CARDIAC TRANSPLANTATION |
| title_fullStr | DES GENE MUTATION IN A FAMILY OF PROBAND WITH MYOFIBRILLARY MYOPATHY AND NON-COMPACTION CARDIOMYOPATHY, RESULTED IN CARDIAC TRANSPLANTATION |
| title_full_unstemmed | DES GENE MUTATION IN A FAMILY OF PROBAND WITH MYOFIBRILLARY MYOPATHY AND NON-COMPACTION CARDIOMYOPATHY, RESULTED IN CARDIAC TRANSPLANTATION |
| title_short | DES GENE MUTATION IN A FAMILY OF PROBAND WITH MYOFIBRILLARY MYOPATHY AND NON-COMPACTION CARDIOMYOPATHY, RESULTED IN CARDIAC TRANSPLANTATION |
| title_sort | des gene mutation in a family of proband with myofibrillary myopathy and non compaction cardiomyopathy resulted in cardiac transplantation |
| topic | des exome sequencing left ventricular non-compaction cardiomyopathy cardiomyopathy myofibrillar myopathy cardiac transplantation skeletal myopathy heart failure sudden cardiac death |
| url | https://russjcardiol.elpub.ru/jour/article/view/2532 |
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