Naslov
The TREAT-NMD DMD Global Database: analysis of more than 7, 000 Duchenne muscular dystrophy mutations

Autori
Bladen, CL ; Salgado, D ; Monges, S ; Foncuberta, ME ; Kekou, K ; Kosma, K ; Dawkins, H ; Lamont, L ; Roy, AJ ; Chamova, T ; Guergueltcheva, V ; Chan, S ; Korngut, L ; Campbell, C ; Dai, Y ; Wang, J ; Barišić, Nina ; Brabec, P, Lahdetie, J ; Walter, MC ; Schreiber Katz, O ; Karcagi, V

Izvornik
Human mutation (1059-7794) 36 (2015); 395-402

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, ostalo

Ključne riječi
Duchenne Muscular Dystrophy Mutations

Sažetak
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)

Izvorni jezik
Engleski

POVEZANOST RADA