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