Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy
Abstract Hypertrophic cardiomyopathy (HCM), a common and clinically heterogeneous disease characterized by unexplained ventricular myocardial hypertrophy and a high risk of sudden cardiac death, is mostly caused by mutations in MYH7 and MYBPC3 genes. As 70% of MYBPC3 mutations introduce a premature ...
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| Veröffentlicht in: | European journal of medical genetics 2012-03, Vol.55 (3), p.163-166 |
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| container_title | European journal of medical genetics |
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| creator | Chanavat, V Seronde, M.F Bouvagnet, P Chevalier, P Rousson, R Millat, G |
| description | Abstract Hypertrophic cardiomyopathy (HCM), a common and clinically heterogeneous disease characterized by unexplained ventricular myocardial hypertrophy and a high risk of sudden cardiac death, is mostly caused by mutations in MYH7 and MYBPC3 genes. As 70% of MYBPC3 mutations introduce a premature termination codon, the purpose of the current study was to report the prevalence of large MYBPC3 rearrangements. A large French cohort of 100 HCM patients, for whom no putatively causative point mutations were identified previously in the most prevalent HCM-causing genes, was investigated using an MLPA methodology. One HCM patient was identified to carry a large MYBPC3 rearrangement ( |
| doi_str_mv | 10.1016/j.ejmg.2012.01.002 |
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As 70% of MYBPC3 mutations introduce a premature termination codon, the purpose of the current study was to report the prevalence of large MYBPC3 rearrangements. A large French cohort of 100 HCM patients, for whom no putatively causative point mutations were identified previously in the most prevalent HCM-causing genes, was investigated using an MLPA methodology. One HCM patient was identified to carry a large MYBPC3 rearrangement (<1%). This patient presents a 3505-bp deletion, which begins in the intron 27 and ends 485 bp after the MYBPC3 stop codon (g.47309385_47312889del). It was originated by recombination of a 296 bp AluSz sequence located in intron 27 and a 300 bp AluSx sequence located immediately downstream of exon 35. This study allowed the characterization of the first large MYBPC3 deletion reported in the literature. However, it appears that MLPA strategy, that moderates the identification of large MYBPC3 rearrangements, might confirm a clinical diagnosis only in a small number of patients (<1%).</description><identifier>ISSN: 1769-7212</identifier><identifier>EISSN: 1878-0849</identifier><identifier>DOI: 10.1016/j.ejmg.2012.01.002</identifier><identifier>PMID: 22314326</identifier><language>eng</language><publisher>Netherlands: Elsevier Masson SAS</publisher><subject>Cardiomyopathy, Hypertrophic - genetics ; Carrier Proteins - genetics ; Gene Deletion ; Gene Rearrangement ; Humans ; Hypertrophic cardiomyopathy ; Male ; Medical Education ; Middle Aged ; MLPA ; Molecular diagnosis ; MYBPC3</subject><ispartof>European journal of medical genetics, 2012-03, Vol.55 (3), p.163-166</ispartof><rights>Elsevier Masson SAS</rights><rights>2012 Elsevier Masson SAS</rights><rights>Copyright © 2012 Elsevier Masson SAS. 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As 70% of MYBPC3 mutations introduce a premature termination codon, the purpose of the current study was to report the prevalence of large MYBPC3 rearrangements. A large French cohort of 100 HCM patients, for whom no putatively causative point mutations were identified previously in the most prevalent HCM-causing genes, was investigated using an MLPA methodology. One HCM patient was identified to carry a large MYBPC3 rearrangement (<1%). This patient presents a 3505-bp deletion, which begins in the intron 27 and ends 485 bp after the MYBPC3 stop codon (g.47309385_47312889del). It was originated by recombination of a 296 bp AluSz sequence located in intron 27 and a 300 bp AluSx sequence located immediately downstream of exon 35. This study allowed the characterization of the first large MYBPC3 deletion reported in the literature. However, it appears that MLPA strategy, that moderates the identification of large MYBPC3 rearrangements, might confirm a clinical diagnosis only in a small number of patients (<1%).</description><subject>Cardiomyopathy, Hypertrophic - genetics</subject><subject>Carrier Proteins - genetics</subject><subject>Gene Deletion</subject><subject>Gene Rearrangement</subject><subject>Humans</subject><subject>Hypertrophic cardiomyopathy</subject><subject>Male</subject><subject>Medical Education</subject><subject>Middle Aged</subject><subject>MLPA</subject><subject>Molecular diagnosis</subject><subject>MYBPC3</subject><issn>1769-7212</issn><issn>1878-0849</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kU2L1TAUhosozof-AReSnavWk6SfIIJedBRmUFAXrkKanNymtk0naZW685-bckcXLlzlwHneF_KcJHlCIaNAy-d9hv14zBhQlgHNANi95JzWVZ1CnTf341yVTVoxys6SixB6AF5T1jxMzhjjNOesPE9-3bgB1TpIT1QnvVQLevtTLtZNxBkiSdwckdx8ff3xwIlH6b2cjjjitBA7xb1ynfPLzlIAsk4eB7mgJnPsiFAgP-zSkW6b0S_ezZ1VREmvrRs3F5lue5Q8MHII-PjuvUy-vH3z-fAuvf5w9f7w6jpVOYUlrQyv6wJLRXNoNdfaNCVlALpQpmoN41wZnsvW1A0rWiUZVY1uDABgK1VR8cvk2al39u52xbCI0QaFwyAndGsQTcFZzupqJ9mJVN6F4NGI2dtR-k1QELt50YvdvNjNC6Aimo-hp3f1azui_hv5ozoCL04Axk9-t-hFUNGQQm09qkVoZ__f__KfuBrsZJUcvuGGoXern6I-QUWIGfFpv_1--t0RQM75b5Xcq5s</recordid><startdate>20120301</startdate><enddate>20120301</enddate><creator>Chanavat, V</creator><creator>Seronde, M.F</creator><creator>Bouvagnet, P</creator><creator>Chevalier, P</creator><creator>Rousson, R</creator><creator>Millat, G</creator><general>Elsevier Masson SAS</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>7X8</scope></search><sort><creationdate>20120301</creationdate><title>Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy</title><author>Chanavat, V ; Seronde, M.F ; Bouvagnet, P ; Chevalier, P ; Rousson, R ; Millat, G</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c410t-7f3885e6c140bd3ddf961200d5cf7bf233cf34abf8925bca21c9d9f000ebac573</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Cardiomyopathy, Hypertrophic - genetics</topic><topic>Carrier Proteins - genetics</topic><topic>Gene Deletion</topic><topic>Gene Rearrangement</topic><topic>Humans</topic><topic>Hypertrophic cardiomyopathy</topic><topic>Male</topic><topic>Medical Education</topic><topic>Middle Aged</topic><topic>MLPA</topic><topic>Molecular diagnosis</topic><topic>MYBPC3</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chanavat, V</creatorcontrib><creatorcontrib>Seronde, M.F</creatorcontrib><creatorcontrib>Bouvagnet, P</creatorcontrib><creatorcontrib>Chevalier, P</creatorcontrib><creatorcontrib>Rousson, R</creatorcontrib><creatorcontrib>Millat, G</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>European journal of medical genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chanavat, V</au><au>Seronde, M.F</au><au>Bouvagnet, P</au><au>Chevalier, P</au><au>Rousson, R</au><au>Millat, G</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy</atitle><jtitle>European journal of medical genetics</jtitle><addtitle>Eur J Med Genet</addtitle><date>2012-03-01</date><risdate>2012</risdate><volume>55</volume><issue>3</issue><spage>163</spage><epage>166</epage><pages>163-166</pages><issn>1769-7212</issn><eissn>1878-0849</eissn><abstract>Abstract Hypertrophic cardiomyopathy (HCM), a common and clinically heterogeneous disease characterized by unexplained ventricular myocardial hypertrophy and a high risk of sudden cardiac death, is mostly caused by mutations in MYH7 and MYBPC3 genes. As 70% of MYBPC3 mutations introduce a premature termination codon, the purpose of the current study was to report the prevalence of large MYBPC3 rearrangements. A large French cohort of 100 HCM patients, for whom no putatively causative point mutations were identified previously in the most prevalent HCM-causing genes, was investigated using an MLPA methodology. One HCM patient was identified to carry a large MYBPC3 rearrangement (<1%). This patient presents a 3505-bp deletion, which begins in the intron 27 and ends 485 bp after the MYBPC3 stop codon (g.47309385_47312889del). It was originated by recombination of a 296 bp AluSz sequence located in intron 27 and a 300 bp AluSx sequence located immediately downstream of exon 35. This study allowed the characterization of the first large MYBPC3 deletion reported in the literature. 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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Cardiomyopathy, Hypertrophic - genetics Carrier Proteins - genetics Gene Deletion Gene Rearrangement Humans Hypertrophic cardiomyopathy Male Medical Education Middle Aged MLPA Molecular diagnosis MYBPC3 |
| title | Molecular characterization of a large MYBPC3 rearrangement in a cohort of 100 unrelated patients with hypertrophic cardiomyopathy |
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