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Article: The TREAT-NMD DMD global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations
Title | The TREAT-NMD DMD global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations |
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Authors | Bladen, Catherine L.Salgado, DavidMonges, SoledadFoncuberta, Maria E.Kekou, KyriakiKosma, KonstantinaDawkins, HughLamont, LeanneRoy, Anna J.Chamova, TeodoraGuergueltcheva, VelinaChan, SopheliaKorngut, LawrenceCampbell, CraigDai, YiWang, JenBarišić, NinaBrabec, PetrLahdetie, JaanaWalter, Maggie C.Schreiber-Katz, OliviaKarcagi, VeronikaGarami, MartaViswanathan, VenkatarmanBayat, FarhadBuccella, FilippoKimura, EnKoeks, Zaïdavan den Bergen, Janneke C.Rodrigues, MiriamRoxburgh, RichardLusakowska, AnnaKostera-Pruszczyk, AnnaZimowski, JanuszSantos, RosárioNeagu, ElenaArtemieva, SvetlanaRasic, Vedrana MilicVojinovic, DinaPosada, ManuelBloetzer, ClemensJeannet, Pierre YvesJoncourt, FranziskaDíaz-Manera, JordiGallardo, EduardKaraduman, A. AyşeTopaloğlu, HalukEl Sherif, RashaStringer, AngelaShatillo, Andriy V.Martin, Ann S.Peay, Holly L.Bellgard, Matthew I.Kirschner, JanFlanigan, Kevin M.Straub, VolkerBushby, KateVerschuuren, JanAartsma-Rus, AnnemiekeBéroud, ChristopheLochmüller, Hanns |
Keywords | DMD TREAT-NMD Rare disease registries Duchenne muscular dystrophy |
Issue Date | 2015 |
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 Identifier | http://hdl.handle.net/10722/233747 |
ISSN | 2023 Impact Factor: 3.3 2023 SCImago Journal Rankings: 1.686 |
ISI Accession Number ID |
DC Field | Value | Language |
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dc.contributor.author | Bladen, Catherine L. | - |
dc.contributor.author | Salgado, David | - |
dc.contributor.author | Monges, Soledad | - |
dc.contributor.author | Foncuberta, Maria E. | - |
dc.contributor.author | Kekou, Kyriaki | - |
dc.contributor.author | Kosma, Konstantina | - |
dc.contributor.author | Dawkins, Hugh | - |
dc.contributor.author | Lamont, Leanne | - |
dc.contributor.author | Roy, Anna J. | - |
dc.contributor.author | Chamova, Teodora | - |
dc.contributor.author | Guergueltcheva, Velina | - |
dc.contributor.author | Chan, Sophelia | - |
dc.contributor.author | Korngut, Lawrence | - |
dc.contributor.author | Campbell, Craig | - |
dc.contributor.author | Dai, Yi | - |
dc.contributor.author | Wang, Jen | - |
dc.contributor.author | Barišić, Nina | - |
dc.contributor.author | Brabec, Petr | - |
dc.contributor.author | Lahdetie, Jaana | - |
dc.contributor.author | Walter, Maggie C. | - |
dc.contributor.author | Schreiber-Katz, Olivia | - |
dc.contributor.author | Karcagi, Veronika | - |
dc.contributor.author | Garami, Marta | - |
dc.contributor.author | Viswanathan, Venkatarman | - |
dc.contributor.author | Bayat, Farhad | - |
dc.contributor.author | Buccella, Filippo | - |
dc.contributor.author | Kimura, En | - |
dc.contributor.author | Koeks, Zaïda | - |
dc.contributor.author | van den Bergen, Janneke C. | - |
dc.contributor.author | Rodrigues, Miriam | - |
dc.contributor.author | Roxburgh, Richard | - |
dc.contributor.author | Lusakowska, Anna | - |
dc.contributor.author | Kostera-Pruszczyk, Anna | - |
dc.contributor.author | Zimowski, Janusz | - |
dc.contributor.author | Santos, Rosário | - |
dc.contributor.author | Neagu, Elena | - |
dc.contributor.author | Artemieva, Svetlana | - |
dc.contributor.author | Rasic, Vedrana Milic | - |
dc.contributor.author | Vojinovic, Dina | - |
dc.contributor.author | Posada, Manuel | - |
dc.contributor.author | Bloetzer, Clemens | - |
dc.contributor.author | Jeannet, Pierre Yves | - |
dc.contributor.author | Joncourt, Franziska | - |
dc.contributor.author | Díaz-Manera, Jordi | - |
dc.contributor.author | Gallardo, Eduard | - |
dc.contributor.author | Karaduman, A. Ayşe | - |
dc.contributor.author | Topaloğlu, Haluk | - |
dc.contributor.author | El Sherif, Rasha | - |
dc.contributor.author | Stringer, Angela | - |
dc.contributor.author | Shatillo, Andriy V. | - |
dc.contributor.author | Martin, Ann S. | - |
dc.contributor.author | Peay, Holly L. | - |
dc.contributor.author | Bellgard, Matthew I. | - |
dc.contributor.author | Kirschner, Jan | - |
dc.contributor.author | Flanigan, Kevin M. | - |
dc.contributor.author | Straub, Volker | - |
dc.contributor.author | Bushby, Kate | - |
dc.contributor.author | Verschuuren, Jan | - |
dc.contributor.author | Aartsma-Rus, Annemieke | - |
dc.contributor.author | Béroud, Christophe | - |
dc.contributor.author | Lochmüller, Hanns | - |
dc.date.accessioned | 2016-09-27T07:21:32Z | - |
dc.date.available | 2016-09-27T07:21:32Z | - |
dc.date.issued | 2015 | - |
dc.identifier.citation | Human Mutation, 2015, v. 36, n. 4, p. 395-402 | - |
dc.identifier.issn | 1059-7794 | - |
dc.identifier.uri | http://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.language | eng | - |
dc.relation.ispartof | Human Mutation | - |
dc.subject | DMD | - |
dc.subject | TREAT-NMD | - |
dc.subject | Rare disease registries | - |
dc.subject | Duchenne muscular dystrophy | - |
dc.title | The TREAT-NMD DMD global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations | - |
dc.type | Article | - |
dc.description.nature | published_or_final_version | - |
dc.identifier.doi | 10.1002/humu.22758 | - |
dc.identifier.pmid | 25604253 | - |
dc.identifier.scopus | eid_2-s2.0-84925879816 | - |
dc.identifier.hkuros | 244510 | - |
dc.identifier.volume | 36 | - |
dc.identifier.issue | 4 | - |
dc.identifier.spage | 395 | - |
dc.identifier.epage | 402 | - |
dc.identifier.eissn | 1098-1004 | - |
dc.identifier.isi | WOS:000352304200002 | - |
dc.identifier.f1000 | 725321170 | - |
dc.identifier.issnl | 1059-7794 | - |