The first results of gene panel sequencing in sudden cardiac death in young men
https://doi.org/10.25557/2073-7998.2020.05.36-38
Abstract
Objective: Search for causal mutations in candidate genes for sudden cardiac death (SCD) in men who die before the age of 45. Materials and methods. The SCD group (30 samples) was formed using the criteria for sudden cardiac death of the WHO and the European Society of Cardiology. The average age is 31,3±5,3 years. Genomic DNA was isolated from myocardial tissue using phenol-chloroform extraction. Clinical exome sequencing was performed. At the first stage, the results of sequencing of 16 genes were analyzed, mutations in which result in CVD associated with an increased risk of SCD: KCNQ1, KCNH2, SCN5A, AKAP9, ANK2, CACNA1C, CALM1, CALM2, CAV3, KCNE1, KCNE2, KCNJ5, KCNJ5, SNTA1, SCN10A. Results. Of 30 samples with SCD, when analyzing the results of sequencing 16 genes, 6 probably pathogenic missense mutations were found in 7 samples (23.3%). 2 mutations were found in the SCN10A gene, one mutation in KCNH2, KCNE1, AKAP9, SNTA1. Findings. Summing up the first results of a pilot SCD study, the following preliminary conclusions can be drawn: it is necessary to continue research in the field of molecular autopsy in Russia, in order to increase the effectiveness of the search for causative mutations, it is desirable to reduce the age of SCD cases included in the study, as well as work with families of deceased SCD.
Keywords
внезапная сердечная смерть,
мутация,
NGS,
панель генов,
экзом,
sudden cardiac death,
mutation,
NGS,
gene panel,
exom
About the Authors
V. N. Maksimov
Research Institutе of Internal and Preventive Medicine -Branch of the Federal State Budget Scientific Institution «The Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences»
Russian Federation
Russian Federation
D. E. Ivanoshchuk
Research Institutе of Internal and Preventive Medicine -Branch of the Federal State Budget Scientific Institution «The Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences»
Russian Federation
Russian Federation
P. S. Orlov
Research Institutе of Internal and Preventive Medicine -Branch of the Federal State Budget Scientific Institution «The Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences»
Russian Federation
Russian Federation
A. A. Ivanova
Research Institutе of Internal and Preventive Medicine -Branch of the Federal State Budget Scientific Institution «The Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences»
Russian Federation
Russian Federation
S. K. Malyutina
Research Institutе of Internal and Preventive Medicine -Branch of the Federal State Budget Scientific Institution «The Federal Research Center Institute of Cytology and Genetics of Siberian Branch of the Russian Academy of Sciences»
Russian Federation
Russian Federation
S. V. Maksimova
Novosibirsk State Medical University
Russian Federation
Russian Federation
I. A. Rodina
Novosibirsk Regional Clinical Bureau of Forensic Expertise
Russian Federation
Russian Federation
O. V. Khamovich
Novosibirsk Regional Clinical Bureau of Forensic Expertise
Russian Federation
Russian Federation
V. P. Novoselov
Novosibirsk State Medical University
Russian Federation
Russian Federation
Review
For citations:
Maksimov V.N., Ivanoshchuk D.E., Orlov P.S., Ivanova A.A., Malyutina S.K., Maksimova S.V., Rodina I.A., Khamovich O.V., Novoselov V.P. The first results of gene panel sequencing in sudden cardiac death in young men. Medical Genetics. 2020;19(5):36-38. (In Russ.) https://doi.org/10.25557/2073-7998.2020.05.36-38
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