The Treat-Nmd Dmd Global Database: Analysis Of More Than 7,000 Duchenne Muscular Dystrophy Mutations
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Date
2015Author
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, Manuel
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
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Show full item recordAbstract
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).
URI
https://doi.org/10.1002/humu.22758https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405042/
http://hdl.handle.net/11655/14477