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The TREAT-NMD DMD Global Database: Analysis of more than 7,000 Duchenne Muscular Dystrophy mutations
- Source :
- Bladen, C.L., Salgado, D., Monges, S., Foncuberta, M.E., Kekou, K., Kosma, K., Dawkins, H., Lamont, L., Roy, A.J., Chamova, T., Guergueltcheva, V., Chan, S., Korngut, L., Campbell, C., Dai, Y., Wang, J., Barišić, N., Brabec, P., Lahdetie, J., Walter, M.C., Schreiber-Katz, O., Karcagi, V., Garami, M., Viswanathan, V., Bayat, F., Buccella, F., Kimura, E., Koeks, Z., van den Bergen, J.C., Rodrigues, M., Roxburgh, R., Lusakowska, A., Kostera-Pruszczyk, A., Zimowski, J., Santos, R., Neagu, E., Artemieva, S., Rasic, V.M., Vojinovic, D., Posada, M., Bloetzer, C., Jeannet, P-Y, Joncourt, F., Díaz-Manera, J., Gallardo, E., Karaduman, A.A., Topaloğlu, H., El Sherif, R., Stringer, A., Shatillo, A.V., Martin, A.S., Peay, H.L., Bellgard, M.I. <
- Publication Year :
- 2015
-
Abstract
- 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).
Details
- Database :
- OAIster
- Journal :
- Bladen, C.L., Salgado, D., Monges, S., Foncuberta, M.E., Kekou, K., Kosma, K., Dawkins, H., Lamont, L., Roy, A.J., Chamova, T., Guergueltcheva, V., Chan, S., Korngut, L., Campbell, C., Dai, Y., Wang, J., Barišić, N., Brabec, P., Lahdetie, J., Walter, M.C., Schreiber-Katz, O., Karcagi, V., Garami, M., Viswanathan, V., Bayat, F., Buccella, F., Kimura, E., Koeks, Z., van den Bergen, J.C., Rodrigues, M., Roxburgh, R., Lusakowska, A., Kostera-Pruszczyk, A., Zimowski, J., Santos, R., Neagu, E., Artemieva, S., Rasic, V.M., Vojinovic, D., Posada, M., Bloetzer, C., Jeannet, P-Y, Joncourt, F., Díaz-Manera, J., Gallardo, E., Karaduman, A.A., Topaloğlu, H., El Sherif, R., Stringer, A., Shatillo, A.V., Martin, A.S., Peay, H.L., Bellgard, M.I. <
- Notes :
- English
- Publication Type :
- Electronic Resource
- Accession number :
- edsoai.ocn907440985
- Document Type :
- Electronic Resource