Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy
Objective Mutations in ion channels genes are potential cause of cardiomyopathy. The SCN5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in SCN5A gene lead to decreased Na+ current and ion unbalance. The SCN5A g...
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| Veröffentlicht in: | Journal of clinical laboratory analysis 2017-03, Vol.31 (2), p.e22037-n/a |
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| creator | Priganc, Mariana Zigová, Michaela Boroňová, Iveta Bernasovská, Jarmila Dojčáková, Dana Szabadosová, Viktória Mydlárová Blaščáková, Marta Tóthová, Iveta Kmec, Ján Bernasovský, Ivan |
| description | Objective
Mutations in ion channels genes are potential cause of cardiomyopathy. The SCN5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in SCN5A gene lead to decreased Na+ current and ion unbalance. The SCN5A gene mutations are found in approximately 2% of patients with dilated cardiomyopathy (DCM), and they may be potential phenotype modifiers in hypertrophic cardiomyopathy (HCM). The role of SCN5A gene mutations in cardiomyopathy is not fully elucidated.
Methods
Three selected exons (12, 20, and 21) of the SCN5A gene in the cohort of 58 East Slovak patients with dilated and HCM were analyzed by the Sanger sequencing method in order to detect etiopathogenic mutations associated with dilated and HCM.
Results
The mutation screening of three selected exons of SCN5A gene in the cohort of 27 DCM, 12 HCM patients, and 16 controls identified 10 missense genetic variants. Three of them (T1247I, A1260D, and G1262S), all in exon 21 of the SCN5A gene, were potentially damaging and disease‐causing variants.
Conclusion
Data from this study demonstrate that SCN5A gene variants have important role in the etiopathogenesis of dilated and HCM. |
| doi_str_mv | 10.1002/jcla.22037 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6816823</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>4320921063</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4817-c8f42b3d82f2e2fcafe1a8d11ca1c8f6109b072f861dc0949da557bdb61f95b33</originalsourceid><addsrcrecordid>eNqNkV2L1DAUhoMo7rh64w-QgDcidM1JJ016IwxlXT8GFVa9Dadp4mTsNGPS2aX_3tRZF_VCvArkPDy857yEPAZ2BozxF1vT4xnnrJR3yAJYrQquuLhLFkwpWSgG5Ql5kNKWMaZqqO6TEy6FWFYlX5B3qwH7KflEg6OXzXuxohd2sPQLRo_DmKgf6DmmkV724Qq_0Y84ejv_X_txQxuMnQ-7Kexx3EwPyT2HfbKPbt5T8vnV-afmdbH-cPGmWa0Ls1QgC6Pckrdlp7jjljuDzgKqDsAg5FmVN2iZ5E5V0BlWL-sOhZBt11bgatGW5Sl5efTuD-3OdibnidjrffQ7jJMO6PWfk8Fv9NdwpSsFleKz4NmNIIbvB5tGvfPJ2L7HwYZD0qByTiFZWf8HKmqZlVxl9Olf6DYcYj7vTEkFHGoxU8-PlIkhpWjdbW5geq5Tz3Xqn3Vm-Mnvm96iv_rLAByBa9_b6R8q_bZZr47SH1ihqdY</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>1878121958</pqid></control><display><type>article</type><title>Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy</title><source>Wiley Online Library - AutoHoldings Journals</source><source>MEDLINE</source><source>PubMed Central (PMC)</source><source>EZB Electronic Journals Library</source><creator>Priganc, Mariana ; Zigová, Michaela ; Boroňová, Iveta ; Bernasovská, Jarmila ; Dojčáková, Dana ; Szabadosová, Viktória ; Mydlárová Blaščáková, Marta ; Tóthová, Iveta ; Kmec, Ján ; Bernasovský, Ivan</creator><creatorcontrib>Priganc, Mariana ; Zigová, Michaela ; Boroňová, Iveta ; Bernasovská, Jarmila ; Dojčáková, Dana ; Szabadosová, Viktória ; Mydlárová Blaščáková, Marta ; Tóthová, Iveta ; Kmec, Ján ; Bernasovský, Ivan</creatorcontrib><description>Objective
Mutations in ion channels genes are potential cause of cardiomyopathy. The SCN5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in SCN5A gene lead to decreased Na+ current and ion unbalance. The SCN5A gene mutations are found in approximately 2% of patients with dilated cardiomyopathy (DCM), and they may be potential phenotype modifiers in hypertrophic cardiomyopathy (HCM). The role of SCN5A gene mutations in cardiomyopathy is not fully elucidated.
Methods
Three selected exons (12, 20, and 21) of the SCN5A gene in the cohort of 58 East Slovak patients with dilated and HCM were analyzed by the Sanger sequencing method in order to detect etiopathogenic mutations associated with dilated and HCM.
Results
The mutation screening of three selected exons of SCN5A gene in the cohort of 27 DCM, 12 HCM patients, and 16 controls identified 10 missense genetic variants. Three of them (T1247I, A1260D, and G1262S), all in exon 21 of the SCN5A gene, were potentially damaging and disease‐causing variants.
Conclusion
Data from this study demonstrate that SCN5A gene variants have important role in the etiopathogenesis of dilated and HCM.</description><identifier>ISSN: 0887-8013</identifier><identifier>EISSN: 1098-2825</identifier><identifier>DOI: 10.1002/jcla.22037</identifier><identifier>PMID: 27554632</identifier><language>eng</language><publisher>United States: John Wiley & Sons, Inc</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Amino Acid Substitution - genetics ; Base Sequence ; Cardiomyopathy ; Cardiomyopathy, Dilated - genetics ; Cardiomyopathy, Hypertrophic - genetics ; East Slovak patients ; Exons - genetics ; Female ; Genes ; Genetic Predisposition to Disease ; Humans ; Male ; Middle Aged ; Mutation ; Mutation, Missense - genetics ; NAV1.5 Voltage-Gated Sodium Channel - genetics ; potentially damaging variants ; SCN5A gene ; Sequence Analysis, DNA ; Silent Mutation - genetics ; Slovakia ; Sodium - metabolism ; Young Adult</subject><ispartof>Journal of clinical laboratory analysis, 2017-03, Vol.31 (2), p.e22037-n/a</ispartof><rights>2016 Wiley Periodicals, Inc.</rights><rights>Copyright © 2017 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4817-c8f42b3d82f2e2fcafe1a8d11ca1c8f6109b072f861dc0949da557bdb61f95b33</citedby><cites>FETCH-LOGICAL-c4817-c8f42b3d82f2e2fcafe1a8d11ca1c8f6109b072f861dc0949da557bdb61f95b33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6816823/pdf/$$EPDF$$P50$$Gpubmedcentral$$H</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6816823/$$EHTML$$P50$$Gpubmedcentral$$H</linktohtml><link.rule.ids>230,314,727,780,784,885,1416,27922,27923,45572,45573,53789,53791</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27554632$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Priganc, Mariana</creatorcontrib><creatorcontrib>Zigová, Michaela</creatorcontrib><creatorcontrib>Boroňová, Iveta</creatorcontrib><creatorcontrib>Bernasovská, Jarmila</creatorcontrib><creatorcontrib>Dojčáková, Dana</creatorcontrib><creatorcontrib>Szabadosová, Viktória</creatorcontrib><creatorcontrib>Mydlárová Blaščáková, Marta</creatorcontrib><creatorcontrib>Tóthová, Iveta</creatorcontrib><creatorcontrib>Kmec, Ján</creatorcontrib><creatorcontrib>Bernasovský, Ivan</creatorcontrib><title>Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy</title><title>Journal of clinical laboratory analysis</title><addtitle>J Clin Lab Anal</addtitle><description>Objective
Mutations in ion channels genes are potential cause of cardiomyopathy. The SCN5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in SCN5A gene lead to decreased Na+ current and ion unbalance. The SCN5A gene mutations are found in approximately 2% of patients with dilated cardiomyopathy (DCM), and they may be potential phenotype modifiers in hypertrophic cardiomyopathy (HCM). The role of SCN5A gene mutations in cardiomyopathy is not fully elucidated.
Methods
Three selected exons (12, 20, and 21) of the SCN5A gene in the cohort of 58 East Slovak patients with dilated and HCM were analyzed by the Sanger sequencing method in order to detect etiopathogenic mutations associated with dilated and HCM.
Results
The mutation screening of three selected exons of SCN5A gene in the cohort of 27 DCM, 12 HCM patients, and 16 controls identified 10 missense genetic variants. Three of them (T1247I, A1260D, and G1262S), all in exon 21 of the SCN5A gene, were potentially damaging and disease‐causing variants.
Conclusion
Data from this study demonstrate that SCN5A gene variants have important role in the etiopathogenesis of dilated and HCM.</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Amino Acid Substitution - genetics</subject><subject>Base Sequence</subject><subject>Cardiomyopathy</subject><subject>Cardiomyopathy, Dilated - genetics</subject><subject>Cardiomyopathy, Hypertrophic - genetics</subject><subject>East Slovak patients</subject><subject>Exons - genetics</subject><subject>Female</subject><subject>Genes</subject><subject>Genetic Predisposition to Disease</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Mutation, Missense - genetics</subject><subject>NAV1.5 Voltage-Gated Sodium Channel - genetics</subject><subject>potentially damaging variants</subject><subject>SCN5A gene</subject><subject>Sequence Analysis, DNA</subject><subject>Silent Mutation - genetics</subject><subject>Slovakia</subject><subject>Sodium - metabolism</subject><subject>Young Adult</subject><issn>0887-8013</issn><issn>1098-2825</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkV2L1DAUhoMo7rh64w-QgDcidM1JJ016IwxlXT8GFVa9Dadp4mTsNGPS2aX_3tRZF_VCvArkPDy857yEPAZ2BozxF1vT4xnnrJR3yAJYrQquuLhLFkwpWSgG5Ql5kNKWMaZqqO6TEy6FWFYlX5B3qwH7KflEg6OXzXuxohd2sPQLRo_DmKgf6DmmkV724Qq_0Y84ejv_X_txQxuMnQ-7Kexx3EwPyT2HfbKPbt5T8vnV-afmdbH-cPGmWa0Ls1QgC6Pckrdlp7jjljuDzgKqDsAg5FmVN2iZ5E5V0BlWL-sOhZBt11bgatGW5Sl5efTuD-3OdibnidjrffQ7jJMO6PWfk8Fv9NdwpSsFleKz4NmNIIbvB5tGvfPJ2L7HwYZD0qByTiFZWf8HKmqZlVxl9Olf6DYcYj7vTEkFHGoxU8-PlIkhpWjdbW5geq5Tz3Xqn3Vm-Mnvm96iv_rLAByBa9_b6R8q_bZZr47SH1ihqdY</recordid><startdate>201703</startdate><enddate>201703</enddate><creator>Priganc, Mariana</creator><creator>Zigová, Michaela</creator><creator>Boroňová, Iveta</creator><creator>Bernasovská, Jarmila</creator><creator>Dojčáková, Dana</creator><creator>Szabadosová, Viktória</creator><creator>Mydlárová Blaščáková, Marta</creator><creator>Tóthová, Iveta</creator><creator>Kmec, Ján</creator><creator>Bernasovský, Ivan</creator><general>John Wiley & Sons, Inc</general><general>John Wiley and Sons Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7QP</scope><scope>7T5</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>201703</creationdate><title>Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy</title><author>Priganc, Mariana ; Zigová, Michaela ; Boroňová, Iveta ; Bernasovská, Jarmila ; Dojčáková, Dana ; Szabadosová, Viktória ; Mydlárová Blaščáková, Marta ; Tóthová, Iveta ; Kmec, Ján ; Bernasovský, Ivan</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4817-c8f42b3d82f2e2fcafe1a8d11ca1c8f6109b072f861dc0949da557bdb61f95b33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Amino Acid Substitution - genetics</topic><topic>Base Sequence</topic><topic>Cardiomyopathy</topic><topic>Cardiomyopathy, Dilated - genetics</topic><topic>Cardiomyopathy, Hypertrophic - genetics</topic><topic>East Slovak patients</topic><topic>Exons - genetics</topic><topic>Female</topic><topic>Genes</topic><topic>Genetic Predisposition to Disease</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Mutation, Missense - genetics</topic><topic>NAV1.5 Voltage-Gated Sodium Channel - genetics</topic><topic>potentially damaging variants</topic><topic>SCN5A gene</topic><topic>Sequence Analysis, DNA</topic><topic>Silent Mutation - genetics</topic><topic>Slovakia</topic><topic>Sodium - metabolism</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Priganc, Mariana</creatorcontrib><creatorcontrib>Zigová, Michaela</creatorcontrib><creatorcontrib>Boroňová, Iveta</creatorcontrib><creatorcontrib>Bernasovská, Jarmila</creatorcontrib><creatorcontrib>Dojčáková, Dana</creatorcontrib><creatorcontrib>Szabadosová, Viktória</creatorcontrib><creatorcontrib>Mydlárová Blaščáková, Marta</creatorcontrib><creatorcontrib>Tóthová, Iveta</creatorcontrib><creatorcontrib>Kmec, Ján</creatorcontrib><creatorcontrib>Bernasovský, Ivan</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of clinical laboratory analysis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Priganc, Mariana</au><au>Zigová, Michaela</au><au>Boroňová, Iveta</au><au>Bernasovská, Jarmila</au><au>Dojčáková, Dana</au><au>Szabadosová, Viktória</au><au>Mydlárová Blaščáková, Marta</au><au>Tóthová, Iveta</au><au>Kmec, Ján</au><au>Bernasovský, Ivan</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy</atitle><jtitle>Journal of clinical laboratory analysis</jtitle><addtitle>J Clin Lab Anal</addtitle><date>2017-03</date><risdate>2017</risdate><volume>31</volume><issue>2</issue><spage>e22037</spage><epage>n/a</epage><pages>e22037-n/a</pages><issn>0887-8013</issn><eissn>1098-2825</eissn><abstract>Objective
Mutations in ion channels genes are potential cause of cardiomyopathy. The SCN5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in SCN5A gene lead to decreased Na+ current and ion unbalance. The SCN5A gene mutations are found in approximately 2% of patients with dilated cardiomyopathy (DCM), and they may be potential phenotype modifiers in hypertrophic cardiomyopathy (HCM). The role of SCN5A gene mutations in cardiomyopathy is not fully elucidated.
Methods
Three selected exons (12, 20, and 21) of the SCN5A gene in the cohort of 58 East Slovak patients with dilated and HCM were analyzed by the Sanger sequencing method in order to detect etiopathogenic mutations associated with dilated and HCM.
Results
The mutation screening of three selected exons of SCN5A gene in the cohort of 27 DCM, 12 HCM patients, and 16 controls identified 10 missense genetic variants. Three of them (T1247I, A1260D, and G1262S), all in exon 21 of the SCN5A gene, were potentially damaging and disease‐causing variants.
Conclusion
Data from this study demonstrate that SCN5A gene variants have important role in the etiopathogenesis of dilated and HCM.</abstract><cop>United States</cop><pub>John Wiley & Sons, Inc</pub><pmid>27554632</pmid><doi>10.1002/jcla.22037</doi><tpages>5</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | Adult Aged Aged, 80 and over Amino Acid Substitution - genetics Base Sequence Cardiomyopathy Cardiomyopathy, Dilated - genetics Cardiomyopathy, Hypertrophic - genetics East Slovak patients Exons - genetics Female Genes Genetic Predisposition to Disease Humans Male Middle Aged Mutation Mutation, Missense - genetics NAV1.5 Voltage-Gated Sodium Channel - genetics potentially damaging variants SCN5A gene Sequence Analysis, DNA Silent Mutation - genetics Slovakia Sodium - metabolism Young Adult |
| title | Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy |
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