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oai:repisalud.isciii.es:20.500.12105/155802025-04-24T14:28:06Zcom_20.500.12105_2052com_20.500.12105_2051col_20.500.12105_19616

00925njm 22002777a 4500 dc Bladen, Catherine L author Salgado, David author Monges, Soledad author Foncuberta, Maria E author Kekou, Kyriaki author Kosma, Konstantina author Dawkins, Hugh author Lamont, Leanne author Roy, Anna J author Chamova, Teodora author Guergueltcheva, Velina author Chan, Sophelia author Korngut, Lawrence author Campbell, Craig author Dai, Yi author Wang, Jen author Barišić, Nina author Brabec, Petr author Lähdetie, Jaana author Walter, Maggie C author Schreiber-Katz, Olivia author Karcagi, Veronika author Garami, Marta author Viswanathan, Venkatarman author Bayat, Farhad author Buccella, Filippo author Kimura, En author Koeks, Zaïda author van den Bergen, Janneke C author Rodrigues, Miriam author Roxburgh, Richard author Lusakowska, Anna author Kostera-Pruszczyk, Anna author Zimowski, Janusz author Santos, Rosário author Neagu, Elena author Artemieva, Svetlana author Rasic, Vedrana Milic author Vojinovic, Dina author Posada De la Paz, Manuel author Bloetzer, Clemens author Jeannet, Pierre-Yves author Joncourt, Franziska author Díaz-Manera, Jordi author Gallardo, Eduard author Karaduman, A Ayşe author Topaloğlu, Haluk author El Sherif, Rasha author Stringer, Angela author Shatillo, Andriy V author Martin, Ann S author Peay, Holly L author Bellgard, Matthew I author Kirschner, Jan author Flanigan, Kevin M author Straub, Volker author Bushby, Kate author Verschuuren, Jan author Aartsma-Rus, Annemieke author Béroud, Christophe author Lochmüller, Hanns author 2015-04 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). Hum Mutat. 2015 Apr;36(4):395-402. 10.1002/humu.22758 1098-1004 Human mutation 25604253 http://hdl.handle.net/20.500.12105/15580 DMD Duchenne muscular dystrophy TREAT-NMD Rare disease registries The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations