TY - JOUR
TI - The TREAT-NMD DMD global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations
AU - Bladen, C.L.
AU - Salgado, D.
AU - Monges, S.
AU - Foncuberta, M.E.
AU - Kekou, K.
AU - Kosma, K.
AU - Dawkins, H.
AU - Lamont, L.
AU - Roy, A.J.
AU - Chamova, T.
AU - Guergueltcheva, V.
AU - Chan, S.
AU - Korngut, L.
AU - Campbell, C.
AU - Dai, Y.
AU - Wang, J.
AU - Barišić, N.
AU - Brabec, P.
AU - Lahdetie, J.
AU - Walter, M.C.
AU - Schreiber-Katz, O.
AU - Karcagi, V.
AU - Garami, M.
AU - Viswanathan, V.
AU - Bayat, F.
AU - Buccella, F.
AU - Kimura, E.
AU - Koeks, Z.
AU - van den Bergen, J.C.
AU - Rodrigues, M.
AU - Roxburgh, R.
AU - Lusakowska, A.
AU - Kostera-Pruszczyk, A.
AU - Zimowski, J.
AU - Santos, R.
AU - Neagu, E.
AU - Artemieva, S.
AU - Rasic, V.M.
AU - Vojinovic, D.
AU - Posada, M.
AU - Bloetzer, C.
AU - Jeannet, P.-Y.
AU - Joncourt, F.
AU - Díaz-Manera, J.
AU - Gallardo, E.
AU - Karaduman, A.A.
AU - Topaloğlu, H.
AU - El Sherif, R.
AU - Stringer, A.
AU - Shatillo, A.V.
AU - Martin, A.S.
AU - Peay, H.L.
AU - Bellgard, M.I.
AU - Kirschner, J.
AU - Flanigan, K.M.
AU - Straub, V.
AU - Bushby, K.
AU - Verschuuren, J.
AU - Aartsma-Rus, A.
AU - Béroud, C.
AU - Lochmüller, H.
JO - Human Mutation
PY - 2015
VL - 36
TODO - 4
SP - 395-402
PB - John Wiley and Sons Inc
SN - 1059-7794, 1098-1004
TODO - 10.1002/humu.22758
TODO - Article;  Duchenne muscular dystrophy;  exon;  exon skipping;  gene deletion;  gene duplication;  gene insertion;  gene mutation;  gene therapy;  genetic analysis;  genetic database;  human;  intron;  missense mutation;  nonsense mutation;  point mutation;  priority journal;  RNA splicing;  stop codon;  Duchenne muscular dystrophy;  genetics;  mutation;  register, dystrophin, Databases, Genetic;  Dystrophin;  Humans;  Muscular Dystrophy, Duchenne;  Mutation;  Registries
TODO - 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). © 2015 The Authors.
ER -