Journal article
The TREAT-NMD DMD Global Database: Analysis of more than 7,000 Duchenne Muscular Dystrophy mutations
Human Mutation, Vol.36(4), pp.395-402
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
- Title
- The TREAT-NMD DMD Global Database: Analysis of more than 7,000 Duchenne Muscular Dystrophy mutations
- Authors/Creators
- C.L. Bladen (Author/Creator) - University of Newcastle AustraliaD. Salgado (Author/Creator) - Aix-Marseille UniversitéS. Monges (Author/Creator)M.E. Foncuberta (Author/Creator)K. Kekou (Author/Creator) - National and Kapodistrian University of AthensK. Kosma (Author/Creator) - National and Kapodistrian University of AthensH. Dawkins (Author/Creator)L. Lamont (Author/Creator)A.J. Roy (Author/Creator)T. Chamova (Author/Creator) - Medical University of SofiaV. Guergueltcheva (Author/Creator) - Medical University of SofiaS. Chan (Author/Creator)L. Korngut (Author/Creator) - University of CalgaryC. Campbell (Author/Creator) - Western UniversityY. Dai (Author/Creator) - Peking Union Medical College HospitalJ. Wang (Author/Creator)N. Barišić (Author/Creator) - University Hospital Centre ZagrebP. Brabec (Author/Creator) - Masaryk UniversityJ. Lahdetie (Author/Creator)M.C. Walter (Author/Creator) - Ludwig-Maximilians-Universität MünchenO. Schreiber-Katz (Author/Creator) - Ludwig-Maximilians-Universität MünchenV. Karcagi (Author/Creator)M. Garami (Author/Creator)V. Viswanathan (Author/Creator) - Boston Children's HospitalF. Bayat (Author/Creator) - Pasteur Institute of IranF. Buccella (Author/Creator)E. Kimura (Author/Creator)Z. Koeks (Author/Creator) - Leiden University Medical CenterJ.C. van den Bergen (Author/Creator) - Leiden University Medical CenterM. Rodrigues (Author/Creator)R. Roxburgh (Author/Creator)A. Lusakowska (Author/Creator) - Medical University of WarsawA. Kostera-Pruszczyk (Author/Creator) - Medical University of WarsawJ. Zimowski (Author/Creator)R. Santos (Author/Creator)E. Neagu (Author/Creator) - American Board of Legal MedicineS. Artemieva (Author/Creator)V.M. Rasic (Author/Creator) - University of BelgradeD. Vojinovic (Author/Creator) - University of BelgradeM. Posada (Author/Creator)C. Bloetzer (Author/Creator) - University of LausanneP-Y Jeannet (Author/Creator) - University of LausanneF. Joncourt (Author/Creator)J. Díaz-Manera (Author/Creator)E. Gallardo (Author/Creator)A.A. Karaduman (Author/Creator) - Hacettepe UniversityH. Topaloğlu (Author/Creator) - Boston Children's HospitalR. El Sherif (Author/Creator) - Ain Shams UniversityA. Stringer (Author/Creator)A.V. Shatillo (Author/Creator)A.S. Martin (Author/Creator)H.L. Peay (Author/Creator)M.I. Bellgard (Author/Creator) - Murdoch UniversityJ. Kirschner (Author/Creator) - University Medical Center FreiburgK.M. Flanigan (Author/Creator) - Nationwide Children's HospitalV. Straub (Author/Creator) - University of Newcastle AustraliaK. Bushby (Author/Creator) - University of Newcastle AustraliaJ. Verschuuren (Author/Creator)A. Aartsma-Rus (Author/Creator) - University of Newcastle AustraliaC. Beroud (Author/Creator) - Aix-Marseille UniversitéH. Lochmüller (Author/Creator) - University of Newcastle Australia
- Publication Details
- Human Mutation, Vol.36(4), pp.395-402
- Publisher
- John Wiley & Sons Inc.
- Identifiers
- 991005545547707891
- Copyright
- © 2015 The Authors.
- Murdoch Affiliation
- Centre for Comparative Genomics
- Language
- English
- Resource Type
- Journal article
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- Citation topics
- 1 Clinical & Life Sciences
- 1.255 Musculoskeletal Disorders
- 1.255.628 Duchenne Muscular Dystrophy
- Web Of Science research areas
- Genetics & Heredity
- ESI research areas
- Molecular Biology & Genetics