Four Novel Plectin Gene Mutations in Japanese Patients with Epidermolysis Bullosa with Muscular Dystrophy Disclosed by Heteroduplex Scanning and Protein Truncation Tests
Epidermolysis bullosa with muscular dystrophy (EB-MD) is a distinct variant of EB caused by mutations in the plectin gene (PLEC1). In this study, we have examined two Japanese patients with EB-MD using heteroduplex scanning or a protein truncation test for mutation detection analysis. The results re...
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| Veröffentlicht in: | Journal of investigative dermatology 1999-01, Vol.112 (1), p.109-112 |
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| container_title | Journal of investigative dermatology |
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| creator | Takizawa, Yasuko Shimizu, Hiroshi Nishikawa, Takeji Rouan, Fatima Kawai, Mitsuru Udono, Masako Pulkkinen, Leena Uitto, Jouni |
| description | Epidermolysis bullosa with muscular dystrophy (EB-MD) is a distinct variant of EB caused by mutations in the plectin gene (PLEC1). In this study, we have examined two Japanese patients with EB-MD using heteroduplex scanning or a protein truncation test for mutation detection analysis. The results revealed that both patients were compound heterozygotes for novel PLEC1 mutations (Q1936X/Q1053X and R2421X/12633ins4), which all caused premature termination of translation of the corresponding polypeptides. These cases, which demonstrate the utility of two complementary mutation detection strategies, add to the repertoire of plectin mutations in EB-MD. |
| doi_str_mv | 10.1046/j.1523-1747.1999.00461.x |
| format | Article |
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In this study, we have examined two Japanese patients with EB-MD using heteroduplex scanning or a protein truncation test for mutation detection analysis. The results revealed that both patients were compound heterozygotes for novel PLEC1 mutations (Q1936X/Q1053X and R2421X/12633ins4), which all caused premature termination of translation of the corresponding polypeptides. These cases, which demonstrate the utility of two complementary mutation detection strategies, add to the repertoire of plectin mutations in EB-MD.</description><identifier>ISSN: 0022-202X</identifier><identifier>EISSN: 1523-1747</identifier><identifier>DOI: 10.1046/j.1523-1747.1999.00461.x</identifier><identifier>PMID: 9886273</identifier><identifier>CODEN: JIDEAE</identifier><language>eng</language><publisher>Danvers, MA: Elsevier Inc</publisher><subject>Adult ; Biological and medical sciences ; blistering skin diseases ; Bullous diseases of the skin ; Child ; Dermatology ; Epidermolysis Bullosa - genetics ; Exons ; Humans ; Intermediate Filament Proteins - genetics ; Male ; Medical sciences ; Muscular Dystrophies - genetics ; Mutation ; mutation detection strategies ; Plectin ; plectin mutations ; Polymerase Chain Reaction</subject><ispartof>Journal of investigative dermatology, 1999-01, Vol.112 (1), p.109-112</ispartof><rights>1999 The Society for Investigative Dermatology, Inc</rights><rights>1999 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c470t-b3a1b0cdc882dd1ab6294158cef0053c326d1d8f7b98f3d28b3dbd5e20aea4fb3</citedby><cites>FETCH-LOGICAL-c470t-b3a1b0cdc882dd1ab6294158cef0053c326d1d8f7b98f3d28b3dbd5e20aea4fb3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>309,310,314,780,784,789,790,4048,4049,23929,23930,25139,27923,27924</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1654505$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9886273$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Takizawa, Yasuko</creatorcontrib><creatorcontrib>Shimizu, Hiroshi</creatorcontrib><creatorcontrib>Nishikawa, Takeji</creatorcontrib><creatorcontrib>Rouan, Fatima</creatorcontrib><creatorcontrib>Kawai, Mitsuru</creatorcontrib><creatorcontrib>Udono, Masako</creatorcontrib><creatorcontrib>Pulkkinen, Leena</creatorcontrib><creatorcontrib>Uitto, Jouni</creatorcontrib><title>Four Novel Plectin Gene Mutations in Japanese Patients with Epidermolysis Bullosa with Muscular Dystrophy Disclosed by Heteroduplex Scanning and Protein Truncation Tests</title><title>Journal of investigative dermatology</title><addtitle>J Invest Dermatol</addtitle><description>Epidermolysis bullosa with muscular dystrophy (EB-MD) is a distinct variant of EB caused by mutations in the plectin gene (PLEC1). 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These cases, which demonstrate the utility of two complementary mutation detection strategies, add to the repertoire of plectin mutations in EB-MD.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>blistering skin diseases</subject><subject>Bullous diseases of the skin</subject><subject>Child</subject><subject>Dermatology</subject><subject>Epidermolysis Bullosa - genetics</subject><subject>Exons</subject><subject>Humans</subject><subject>Intermediate Filament Proteins - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Muscular Dystrophies - genetics</subject><subject>Mutation</subject><subject>mutation detection strategies</subject><subject>Plectin</subject><subject>plectin mutations</subject><subject>Polymerase Chain Reaction</subject><issn>0022-202X</issn><issn>1523-1747</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1999</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkctuEzEUQEcIVELhE5C8QOwSbM_Ls6TvohYiESR2lse-Qx059uBHyXwSf1mnicKSlaV77sv3FAUieEFw1XxaL0hNyzlpq3ZBuq5b4Bwli-2LYnYEL4sZxpTOKaY_XxdvQlhjTJqqZifFScdYQ9tyVvy9csmjr-4RDFoakFFbdA0W0H2KImpnA8qRL2IUFgKgZY6BjQH90fEBXY5agd84MwUd0FkyxgWxR_cpyGSERxdTiN6NDxO60EHmBFCon9ANRPBOpdHAFn2XwlptfyFhFVp6FyHPXPlk5fMKaAUhhrfFq0GYAO8O72nx4-pydX4zv_t2fXv--W4uqxbHeV8K0mOpJGNUKSL6hnYVqZmEAeO6lCVtFFFsaPuODaWirC9Vr2qgWICohr48LT7u-47e_U55Mt_kxcGYfAGXAm-6uiKElTmR7ROldyF4GPjo9Ub4iRPMd5b4mu9k8J0MvrPEny3xbS59f5iR-g2oY-FBS-YfDlwEKczghZU6_Ovf1FWdP3NsY0VMHo68bjAuO5r52Z5DvtejBs-DzPokKO2zaq6c_v-uT_vbv3s</recordid><startdate>199901</startdate><enddate>199901</enddate><creator>Takizawa, Yasuko</creator><creator>Shimizu, Hiroshi</creator><creator>Nishikawa, Takeji</creator><creator>Rouan, Fatima</creator><creator>Kawai, Mitsuru</creator><creator>Udono, Masako</creator><creator>Pulkkinen, Leena</creator><creator>Uitto, Jouni</creator><general>Elsevier Inc</general><general>Nature Publishing</general><scope>6I.</scope><scope>AAFTH</scope><scope>IQODW</scope><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>199901</creationdate><title>Four Novel Plectin Gene Mutations in Japanese Patients with Epidermolysis Bullosa with Muscular Dystrophy Disclosed by Heteroduplex Scanning and Protein Truncation Tests</title><author>Takizawa, Yasuko ; 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| source | MEDLINE; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Adult Biological and medical sciences blistering skin diseases Bullous diseases of the skin Child Dermatology Epidermolysis Bullosa - genetics Exons Humans Intermediate Filament Proteins - genetics Male Medical sciences Muscular Dystrophies - genetics Mutation mutation detection strategies Plectin plectin mutations Polymerase Chain Reaction |
| title | Four Novel Plectin Gene Mutations in Japanese Patients with Epidermolysis Bullosa with Muscular Dystrophy Disclosed by Heteroduplex Scanning and Protein Truncation Tests |
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