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Article: The TREAT-NMD DMD global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations

TitleThe TREAT-NMD DMD global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations
Authors
KeywordsDMD
TREAT-NMD
Rare disease registries
Duchenne muscular dystrophy
Issue Date2015
Citation
Human Mutation, 2015, v. 36, n. 4, p. 395-402 How to Cite?
Abstract© 2015 The Authors.Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).
Persistent Identifierhttp://hdl.handle.net/10722/233747
ISSN
2015 Impact Factor: 5.089
2015 SCImago Journal Rankings: 3.670

 

DC FieldValueLanguage
dc.contributor.authorBladen, Catherine L.-
dc.contributor.authorSalgado, David-
dc.contributor.authorMonges, Soledad-
dc.contributor.authorFoncuberta, Maria E.-
dc.contributor.authorKekou, Kyriaki-
dc.contributor.authorKosma, Konstantina-
dc.contributor.authorDawkins, Hugh-
dc.contributor.authorLamont, Leanne-
dc.contributor.authorRoy, Anna J.-
dc.contributor.authorChamova, Teodora-
dc.contributor.authorGuergueltcheva, Velina-
dc.contributor.authorChan, Sophelia-
dc.contributor.authorKorngut, Lawrence-
dc.contributor.authorCampbell, Craig-
dc.contributor.authorDai, Yi-
dc.contributor.authorWang, Jen-
dc.contributor.authorBarišić, Nina-
dc.contributor.authorBrabec, Petr-
dc.contributor.authorLahdetie, Jaana-
dc.contributor.authorWalter, Maggie C.-
dc.contributor.authorSchreiber-Katz, Olivia-
dc.contributor.authorKarcagi, Veronika-
dc.contributor.authorGarami, Marta-
dc.contributor.authorViswanathan, Venkatarman-
dc.contributor.authorBayat, Farhad-
dc.contributor.authorBuccella, Filippo-
dc.contributor.authorKimura, En-
dc.contributor.authorKoeks, Zaïda-
dc.contributor.authorvan den Bergen, Janneke C.-
dc.contributor.authorRodrigues, Miriam-
dc.contributor.authorRoxburgh, Richard-
dc.contributor.authorLusakowska, Anna-
dc.contributor.authorKostera-Pruszczyk, Anna-
dc.contributor.authorZimowski, Janusz-
dc.contributor.authorSantos, Rosário-
dc.contributor.authorNeagu, Elena-
dc.contributor.authorArtemieva, Svetlana-
dc.contributor.authorRasic, Vedrana Milic-
dc.contributor.authorVojinovic, Dina-
dc.contributor.authorPosada, Manuel-
dc.contributor.authorBloetzer, Clemens-
dc.contributor.authorJeannet, Pierre Yves-
dc.contributor.authorJoncourt, Franziska-
dc.contributor.authorDíaz-Manera, Jordi-
dc.contributor.authorGallardo, Eduard-
dc.contributor.authorKaraduman, A. Ayşe-
dc.contributor.authorTopaloğlu, Haluk-
dc.contributor.authorEl Sherif, Rasha-
dc.contributor.authorStringer, Angela-
dc.contributor.authorShatillo, Andriy V.-
dc.contributor.authorMartin, Ann S.-
dc.contributor.authorPeay, Holly L.-
dc.contributor.authorBellgard, Matthew I.-
dc.contributor.authorKirschner, Jan-
dc.contributor.authorFlanigan, Kevin M.-
dc.contributor.authorStraub, Volker-
dc.contributor.authorBushby, Kate-
dc.contributor.authorVerschuuren, Jan-
dc.contributor.authorAartsma-Rus, Annemieke-
dc.contributor.authorBéroud, Christophe-
dc.contributor.authorLochmüller, Hanns-
dc.date.accessioned2016-09-27T07:21:32Z-
dc.date.available2016-09-27T07:21:32Z-
dc.date.issued2015-
dc.identifier.citationHuman Mutation, 2015, v. 36, n. 4, p. 395-402-
dc.identifier.issn1059-7794-
dc.identifier.urihttp://hdl.handle.net/10722/233747-
dc.description.abstract© 2015 The Authors.Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, and improved clinical care. Locus-specific databases allow for the collection, organization, storage, and analysis of genetic variants of disease. Here, we describe the development and analysis of the TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed genetic data for 7,149 DMD mutations held within the database. A total of 5,682 large mutations were observed (80% of total mutations), of which 4,894 (86%) were deletions (1 exon or larger) and 784 (14%) were duplications (1 exon or larger). There were 1,445 small mutations (smaller than 1 exon, 20% of all mutations), of which 358 (25%) were small deletions and 132 (9%) small insertions and 199 (14%) affected the splice sites. Point mutations totalled 756 (52% of small mutations) with 726 (50%) nonsense mutations and 30 (2%) missense mutations. Finally, 22 (0.3%) mid-intronic mutations were observed. In addition, mutations were identified within the database that would potentially benefit from novel genetic therapies for DMD including stop codon read-through therapies (10% of total mutations) and exon skipping therapy (80% of deletions and 55% of total mutations).-
dc.languageeng-
dc.relation.ispartofHuman Mutation-
dc.rightsCreative Commons: Attribution 3.0 Hong Kong License-
dc.subjectDMD-
dc.subjectTREAT-NMD-
dc.subjectRare disease registries-
dc.subjectDuchenne muscular dystrophy-
dc.titleThe TREAT-NMD DMD global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations-
dc.typeArticle-
dc.description.naturepublished_or_final_version-
dc.identifier.doi10.1002/humu.22758-
dc.identifier.pmid25604253-
dc.identifier.scopuseid_2-s2.0-84925879816-
dc.identifier.hkuros244510-
dc.identifier.volume36-
dc.identifier.issue4-
dc.identifier.spage395-
dc.identifier.epage402-
dc.identifier.eissn1098-1004-
dc.identifier.f1000725321170-

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