Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients

Hypertrophic cardiomyopathy (HCM) is a common cardiac genetic disorder associated with heart failure and sudden death. Mutations in the cardiac sarcomere genes are found in approximately half of HCM patients and are more common among cases with a family history of the disease. Data about the mutatio...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:Genetic testing and molecular biomarkers 2016-11, Vol.20 (11), p.674-679
Hauptverfasser: Jaafar, Nawel, Gómez, Juan, Kammoun, Ikram, Zairi, Ihsen, Amara, Wael Ben, Kachboura, Salem, Kraiem, Sondes, Hammami, Mohamed, Iglesias, Sara, Alonso, Belén, Coto, Eliecer
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
container_end_page 679
container_issue 11
container_start_page 674
container_title Genetic testing and molecular biomarkers
container_volume 20
creator Jaafar, Nawel
Gómez, Juan
Kammoun, Ikram
Zairi, Ihsen
Amara, Wael Ben
Kachboura, Salem
Kraiem, Sondes
Hammami, Mohamed
Iglesias, Sara
Alonso, Belén
Coto, Eliecer
description Hypertrophic cardiomyopathy (HCM) is a common cardiac genetic disorder associated with heart failure and sudden death. Mutations in the cardiac sarcomere genes are found in approximately half of HCM patients and are more common among cases with a family history of the disease. Data about the mutational spectrum of the sarcomeric genes in HCM patients from Northern Africa are limited. The population of Tunisia is particularly interesting due to its Berber genetic background. As founder mutations have been reported in other disorders. We performed semiconductor chip (Ion Torrent PGM) next generation sequencing of the nine main sarcomeric genes (MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, TNNC1, MYL2, MYL3, TPM1) as well as the recently identified as an HCM gene, FLNC, in 45 Tunisian HCM patients. We found sarcomere gene polymorphisms in 12 patients (27%), with MYBPC3 and MYH7 representing 83% (10/12) of the mutations. One patient was homozygous for a new MYL3 mutation and two were double MYBPC3 + MYH7 mutation carriers. Screening of the FLNC gene identified three new mutations, which points to FLNC mutations as an important cause of HCM among Tunisians. The mutational background of HCM in Tunisia is heterogeneous. Unlike other Mendelian disorders, there were no highly prevalent mutations that could explain most of the cases. Our study also suggested that FLNC mutations may play a role on the risk for HCM among Tunisians.
doi_str_mv 10.1089/gtmb.2016.0187
format Article
fullrecord <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_1846421214</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2135700350</sourcerecordid><originalsourceid>FETCH-LOGICAL-c356t-79df96c30d0da55a1ef33c16f4d19fb0aedf71b6dd94dd45534150bcc4eeb7eb3</originalsourceid><addsrcrecordid>eNqNkTtPwzAUhS0EgvJYGZElFpYW3_iRZEQVFKQiEI_ZcmynBDV2sJ2h_55ElA5MTPcM3znS1YfQOZAZkKK8XqW2mmUExIxAke-hCZSMT0nG8_1dFvwIHcf4SYhgtBCH6CjLec5KKCbo5bWzOoW-xb7Gj31SqfEu4sbh-01nQwq--2g0nqtgGt9ufKfSxwYvrLMR37TerfBb75rYKIefh651KZ6ig1qtoz3b3hP0fnf7Nr-fLp8WD_Ob5VRTLtI0L01dCk2JIUZxrsDWlGoQNTNQ1hVR1tQ5VMKYkhnDOKcMOKm0ZtZWua3oCbr62e2C_-ptTLJtorbrtXLW91FCwQTLIAP2D5SWkGWs4AN6-Qf99H1wwyMyA8pzQignAzX7oXTwMQZbyy40rQobCUSOYuQoRo5i5ChmKFxsZ_uqtWaH_5qg33BXigk</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2135700350</pqid></control><display><type>article</type><title>Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients</title><source>MEDLINE</source><source>Alma/SFX Local Collection</source><creator>Jaafar, Nawel ; Gómez, Juan ; Kammoun, Ikram ; Zairi, Ihsen ; Amara, Wael Ben ; Kachboura, Salem ; Kraiem, Sondes ; Hammami, Mohamed ; Iglesias, Sara ; Alonso, Belén ; Coto, Eliecer</creator><creatorcontrib>Jaafar, Nawel ; Gómez, Juan ; Kammoun, Ikram ; Zairi, Ihsen ; Amara, Wael Ben ; Kachboura, Salem ; Kraiem, Sondes ; Hammami, Mohamed ; Iglesias, Sara ; Alonso, Belén ; Coto, Eliecer</creatorcontrib><description>Hypertrophic cardiomyopathy (HCM) is a common cardiac genetic disorder associated with heart failure and sudden death. Mutations in the cardiac sarcomere genes are found in approximately half of HCM patients and are more common among cases with a family history of the disease. Data about the mutational spectrum of the sarcomeric genes in HCM patients from Northern Africa are limited. The population of Tunisia is particularly interesting due to its Berber genetic background. As founder mutations have been reported in other disorders. We performed semiconductor chip (Ion Torrent PGM) next generation sequencing of the nine main sarcomeric genes (MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, TNNC1, MYL2, MYL3, TPM1) as well as the recently identified as an HCM gene, FLNC, in 45 Tunisian HCM patients. We found sarcomere gene polymorphisms in 12 patients (27%), with MYBPC3 and MYH7 representing 83% (10/12) of the mutations. One patient was homozygous for a new MYL3 mutation and two were double MYBPC3 + MYH7 mutation carriers. Screening of the FLNC gene identified three new mutations, which points to FLNC mutations as an important cause of HCM among Tunisians. The mutational background of HCM in Tunisia is heterogeneous. Unlike other Mendelian disorders, there were no highly prevalent mutations that could explain most of the cases. Our study also suggested that FLNC mutations may play a role on the risk for HCM among Tunisians.</description><identifier>ISSN: 1945-0265</identifier><identifier>EISSN: 1945-0257</identifier><identifier>DOI: 10.1089/gtmb.2016.0187</identifier><identifier>PMID: 27574918</identifier><language>eng</language><publisher>United States: Mary Ann Liebert, Inc</publisher><subject>Adult ; African Continental Ancestry Group - genetics ; Aged ; Cardiac Myosins - genetics ; Cardiac Myosins - metabolism ; Cardiomyopathy ; Cardiomyopathy, Hypertrophic - genetics ; Carrier Proteins - genetics ; Carrier Proteins - metabolism ; Disorders ; Ethnic Groups - genetics ; Female ; Filamins - genetics ; Filamins - metabolism ; Gene sequencing ; Genes ; Genetic disorders ; Genetics ; Heart ; Heart diseases ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Mutation ; Myosin Heavy Chains - genetics ; Myosin Heavy Chains - metabolism ; Next-generation sequencing ; Patients ; Pedigree ; Polymorphism, Genetic ; Prevalence ; Sarcomeres - genetics ; Tunisia</subject><ispartof>Genetic testing and molecular biomarkers, 2016-11, Vol.20 (11), p.674-679</ispartof><rights>Copyright Mary Ann Liebert, Inc. Nov 2016</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c356t-79df96c30d0da55a1ef33c16f4d19fb0aedf71b6dd94dd45534150bcc4eeb7eb3</citedby><cites>FETCH-LOGICAL-c356t-79df96c30d0da55a1ef33c16f4d19fb0aedf71b6dd94dd45534150bcc4eeb7eb3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>315,781,785,27926,27927</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/27574918$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jaafar, Nawel</creatorcontrib><creatorcontrib>Gómez, Juan</creatorcontrib><creatorcontrib>Kammoun, Ikram</creatorcontrib><creatorcontrib>Zairi, Ihsen</creatorcontrib><creatorcontrib>Amara, Wael Ben</creatorcontrib><creatorcontrib>Kachboura, Salem</creatorcontrib><creatorcontrib>Kraiem, Sondes</creatorcontrib><creatorcontrib>Hammami, Mohamed</creatorcontrib><creatorcontrib>Iglesias, Sara</creatorcontrib><creatorcontrib>Alonso, Belén</creatorcontrib><creatorcontrib>Coto, Eliecer</creatorcontrib><title>Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients</title><title>Genetic testing and molecular biomarkers</title><addtitle>Genet Test Mol Biomarkers</addtitle><description>Hypertrophic cardiomyopathy (HCM) is a common cardiac genetic disorder associated with heart failure and sudden death. Mutations in the cardiac sarcomere genes are found in approximately half of HCM patients and are more common among cases with a family history of the disease. Data about the mutational spectrum of the sarcomeric genes in HCM patients from Northern Africa are limited. The population of Tunisia is particularly interesting due to its Berber genetic background. As founder mutations have been reported in other disorders. We performed semiconductor chip (Ion Torrent PGM) next generation sequencing of the nine main sarcomeric genes (MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, TNNC1, MYL2, MYL3, TPM1) as well as the recently identified as an HCM gene, FLNC, in 45 Tunisian HCM patients. We found sarcomere gene polymorphisms in 12 patients (27%), with MYBPC3 and MYH7 representing 83% (10/12) of the mutations. One patient was homozygous for a new MYL3 mutation and two were double MYBPC3 + MYH7 mutation carriers. Screening of the FLNC gene identified three new mutations, which points to FLNC mutations as an important cause of HCM among Tunisians. The mutational background of HCM in Tunisia is heterogeneous. Unlike other Mendelian disorders, there were no highly prevalent mutations that could explain most of the cases. Our study also suggested that FLNC mutations may play a role on the risk for HCM among Tunisians.</description><subject>Adult</subject><subject>African Continental Ancestry Group - genetics</subject><subject>Aged</subject><subject>Cardiac Myosins - genetics</subject><subject>Cardiac Myosins - metabolism</subject><subject>Cardiomyopathy</subject><subject>Cardiomyopathy, Hypertrophic - genetics</subject><subject>Carrier Proteins - genetics</subject><subject>Carrier Proteins - metabolism</subject><subject>Disorders</subject><subject>Ethnic Groups - genetics</subject><subject>Female</subject><subject>Filamins - genetics</subject><subject>Filamins - metabolism</subject><subject>Gene sequencing</subject><subject>Genes</subject><subject>Genetic disorders</subject><subject>Genetics</subject><subject>Heart</subject><subject>Heart diseases</subject><subject>Heterozygote</subject><subject>High-Throughput Nucleotide Sequencing</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Mutation</subject><subject>Myosin Heavy Chains - genetics</subject><subject>Myosin Heavy Chains - metabolism</subject><subject>Next-generation sequencing</subject><subject>Patients</subject><subject>Pedigree</subject><subject>Polymorphism, Genetic</subject><subject>Prevalence</subject><subject>Sarcomeres - genetics</subject><subject>Tunisia</subject><issn>1945-0265</issn><issn>1945-0257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2016</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkTtPwzAUhS0EgvJYGZElFpYW3_iRZEQVFKQiEI_ZcmynBDV2sJ2h_55ElA5MTPcM3znS1YfQOZAZkKK8XqW2mmUExIxAke-hCZSMT0nG8_1dFvwIHcf4SYhgtBCH6CjLec5KKCbo5bWzOoW-xb7Gj31SqfEu4sbh-01nQwq--2g0nqtgGt9ufKfSxwYvrLMR37TerfBb75rYKIefh651KZ6ig1qtoz3b3hP0fnf7Nr-fLp8WD_Ob5VRTLtI0L01dCk2JIUZxrsDWlGoQNTNQ1hVR1tQ5VMKYkhnDOKcMOKm0ZtZWua3oCbr62e2C_-ptTLJtorbrtXLW91FCwQTLIAP2D5SWkGWs4AN6-Qf99H1wwyMyA8pzQignAzX7oXTwMQZbyy40rQobCUSOYuQoRo5i5ChmKFxsZ_uqtWaH_5qg33BXigk</recordid><startdate>201611</startdate><enddate>201611</enddate><creator>Jaafar, Nawel</creator><creator>Gómez, Juan</creator><creator>Kammoun, Ikram</creator><creator>Zairi, Ihsen</creator><creator>Amara, Wael Ben</creator><creator>Kachboura, Salem</creator><creator>Kraiem, Sondes</creator><creator>Hammami, Mohamed</creator><creator>Iglesias, Sara</creator><creator>Alonso, Belén</creator><creator>Coto, Eliecer</creator><general>Mary Ann Liebert, 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>7QO</scope><scope>7QP</scope><scope>7T5</scope><scope>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>H94</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>201611</creationdate><title>Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients</title><author>Jaafar, Nawel ; Gómez, Juan ; Kammoun, Ikram ; Zairi, Ihsen ; Amara, Wael Ben ; Kachboura, Salem ; Kraiem, Sondes ; Hammami, Mohamed ; Iglesias, Sara ; Alonso, Belén ; Coto, Eliecer</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c356t-79df96c30d0da55a1ef33c16f4d19fb0aedf71b6dd94dd45534150bcc4eeb7eb3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2016</creationdate><topic>Adult</topic><topic>African Continental Ancestry Group - genetics</topic><topic>Aged</topic><topic>Cardiac Myosins - genetics</topic><topic>Cardiac Myosins - metabolism</topic><topic>Cardiomyopathy</topic><topic>Cardiomyopathy, Hypertrophic - genetics</topic><topic>Carrier Proteins - genetics</topic><topic>Carrier Proteins - metabolism</topic><topic>Disorders</topic><topic>Ethnic Groups - genetics</topic><topic>Female</topic><topic>Filamins - genetics</topic><topic>Filamins - metabolism</topic><topic>Gene sequencing</topic><topic>Genes</topic><topic>Genetic disorders</topic><topic>Genetics</topic><topic>Heart</topic><topic>Heart diseases</topic><topic>Heterozygote</topic><topic>High-Throughput Nucleotide Sequencing</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Mutation</topic><topic>Myosin Heavy Chains - genetics</topic><topic>Myosin Heavy Chains - metabolism</topic><topic>Next-generation sequencing</topic><topic>Patients</topic><topic>Pedigree</topic><topic>Polymorphism, Genetic</topic><topic>Prevalence</topic><topic>Sarcomeres - genetics</topic><topic>Tunisia</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jaafar, Nawel</creatorcontrib><creatorcontrib>Gómez, Juan</creatorcontrib><creatorcontrib>Kammoun, Ikram</creatorcontrib><creatorcontrib>Zairi, Ihsen</creatorcontrib><creatorcontrib>Amara, Wael Ben</creatorcontrib><creatorcontrib>Kachboura, Salem</creatorcontrib><creatorcontrib>Kraiem, Sondes</creatorcontrib><creatorcontrib>Hammami, Mohamed</creatorcontrib><creatorcontrib>Iglesias, Sara</creatorcontrib><creatorcontrib>Alonso, Belén</creatorcontrib><creatorcontrib>Coto, Eliecer</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Biotechnology Research Abstracts</collection><collection>Calcium &amp; Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Genetic testing and molecular biomarkers</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jaafar, Nawel</au><au>Gómez, Juan</au><au>Kammoun, Ikram</au><au>Zairi, Ihsen</au><au>Amara, Wael Ben</au><au>Kachboura, Salem</au><au>Kraiem, Sondes</au><au>Hammami, Mohamed</au><au>Iglesias, Sara</au><au>Alonso, Belén</au><au>Coto, Eliecer</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients</atitle><jtitle>Genetic testing and molecular biomarkers</jtitle><addtitle>Genet Test Mol Biomarkers</addtitle><date>2016-11</date><risdate>2016</risdate><volume>20</volume><issue>11</issue><spage>674</spage><epage>679</epage><pages>674-679</pages><issn>1945-0265</issn><eissn>1945-0257</eissn><abstract>Hypertrophic cardiomyopathy (HCM) is a common cardiac genetic disorder associated with heart failure and sudden death. Mutations in the cardiac sarcomere genes are found in approximately half of HCM patients and are more common among cases with a family history of the disease. Data about the mutational spectrum of the sarcomeric genes in HCM patients from Northern Africa are limited. The population of Tunisia is particularly interesting due to its Berber genetic background. As founder mutations have been reported in other disorders. We performed semiconductor chip (Ion Torrent PGM) next generation sequencing of the nine main sarcomeric genes (MYH7, MYBPC3, TNNT2, TNNI3, ACTC1, TNNC1, MYL2, MYL3, TPM1) as well as the recently identified as an HCM gene, FLNC, in 45 Tunisian HCM patients. We found sarcomere gene polymorphisms in 12 patients (27%), with MYBPC3 and MYH7 representing 83% (10/12) of the mutations. One patient was homozygous for a new MYL3 mutation and two were double MYBPC3 + MYH7 mutation carriers. Screening of the FLNC gene identified three new mutations, which points to FLNC mutations as an important cause of HCM among Tunisians. The mutational background of HCM in Tunisia is heterogeneous. Unlike other Mendelian disorders, there were no highly prevalent mutations that could explain most of the cases. Our study also suggested that FLNC mutations may play a role on the risk for HCM among Tunisians.</abstract><cop>United States</cop><pub>Mary Ann Liebert, Inc</pub><pmid>27574918</pmid><doi>10.1089/gtmb.2016.0187</doi><tpages>6</tpages></addata></record>
fulltext fulltext
identifier ISSN: 1945-0265
ispartof Genetic testing and molecular biomarkers, 2016-11, Vol.20 (11), p.674-679
issn 1945-0265
1945-0257
language eng
recordid cdi_proquest_miscellaneous_1846421214
source MEDLINE; Alma/SFX Local Collection
subjects Adult
African Continental Ancestry Group - genetics
Aged
Cardiac Myosins - genetics
Cardiac Myosins - metabolism
Cardiomyopathy
Cardiomyopathy, Hypertrophic - genetics
Carrier Proteins - genetics
Carrier Proteins - metabolism
Disorders
Ethnic Groups - genetics
Female
Filamins - genetics
Filamins - metabolism
Gene sequencing
Genes
Genetic disorders
Genetics
Heart
Heart diseases
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Male
Middle Aged
Mutation
Myosin Heavy Chains - genetics
Myosin Heavy Chains - metabolism
Next-generation sequencing
Patients
Pedigree
Polymorphism, Genetic
Prevalence
Sarcomeres - genetics
Tunisia
title Spectrum of Mutations in Hypertrophic Cardiomyopathy Genes Among Tunisian Patients
url https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-17T17%3A05%3A11IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Spectrum%20of%20Mutations%20in%20Hypertrophic%20Cardiomyopathy%20Genes%20Among%20Tunisian%20Patients&rft.jtitle=Genetic%20testing%20and%20molecular%20biomarkers&rft.au=Jaafar,%20Nawel&rft.date=2016-11&rft.volume=20&rft.issue=11&rft.spage=674&rft.epage=679&rft.pages=674-679&rft.issn=1945-0265&rft.eissn=1945-0257&rft_id=info:doi/10.1089/gtmb.2016.0187&rft_dat=%3Cproquest_cross%3E2135700350%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=2135700350&rft_id=info:pmid/27574918&rfr_iscdi=true