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

Détails

Ressource 1Télécharger: Bladen_et_al-2015-Human_Mutation.pdf (677.78 [Ko])
Etat: Public
Version: Final published version
ID Serval
serval:BIB_05A0E8F0DE35
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
Périodique
Human mutation
Auteur(s)
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., Kirschner J., Flanigan K.M., Straub V., Bushby K., Verschuuren J., Aartsma-Rus A., Béroud C., Lochmüller H.
ISSN
1098-1004 (Electronic)
ISSN-L
1059-7794
Statut éditorial
Publié
Date de publication
04/2015
Peer-reviewed
Oui
Volume
36
Numéro
4
Pages
395-402
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
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).

Mots-clé
Databases, Genetic, Dystrophin/genetics, Humans, Muscular Dystrophy, Duchenne/genetics, Mutation, Registries, DMD, Duchenne muscular dystrophy, TREAT-NMD, rare disease registries
Pubmed
Web of science
Open Access
Oui
Création de la notice
11/05/2015 13:31
Dernière modification de la notice
20/08/2019 12:27
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