Journal
HUMAN MUTATION
Volume 36, Issue 4, Pages 395-402Publisher
WILEY
DOI: 10.1002/humu.22758
Keywords
DMD; Duchenne muscular dystrophy; TREAT-NMD; rare disease registries
Categories
Funding
- TREAT-NMD [FP6LSHM-CT-2006-036825, 20123307 UNEW_FY2013, AFM 16104]
- European Union [305444, 305121]
- MRC [MR/K000608/1] Funding Source: UKRI
- Medical Research Council [MR/K000608/1] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0512-10036] Funding Source: researchfish
- Grants-in-Aid for Scientific Research [24591284] Funding Source: KAKEN
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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 (). 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).
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