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

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

Ziekten en gezondheid in kaart brengen  

Public Access

Published

Peer reviewed scientific article

Engels

DOI : http://dx.doi.org/10.1002/humu.22758 [1]

Auteurs

Bladen,C.L. [2]; Salgado,D. [3]; Monges,S. [4]; Foncuberta,M.E. [5]; Kekou,K. [6]; Kosma,K. [7]; Dawkins,H. [8]; Lamont,L. [9]; A. Roy [10]; Chamova,T. [11]; Guergueltcheva,V. [12]; Chan,S. [13]; Korngut,L. [14]; Campbell,C. [15]; Dai,Y. [16]; Wang,J. [17]; Barisic,N. [18]; Brabec,P. [19]; Lahdetie,J. [20]; Walter,M.C. [21]; O. Schreiber-Katz [22]; Karcagi,V. [23]; Garami,M. [24]; Viswanathan,V. [25]; Bayat,F. [26]; Buccella,F. [27]; Kimura,E. [28]; Koeks,Z. [29]; van den Bergen,J.C. [30]; Rodrigues,M. [31]; Roxburgh,R. [32]; Lusakowska,A. [33]; Kostera-Pruszczyk,A. [34]; Zimowski,J. [35]; Santos,R. [36]; Neagu,E. [37]; Artemieva,S. [38]; Rasic,V.M. [39]; Vojinovic,D. [40]; Posada,M. [41]; Bloetzer,C. [42]; Jeannet,P.Y. [43]; Joncourt,F. [44]; Diaz-Manera,J. [45]; Gallardo,E. [46]; A.A. Karaduman [47]; Topaloglu,H. [48]; R. El Sherif [49]; Stringer,A. [50]; Shatillo,A.V. [51]; A.S. Martin [52]; H.L. Peay [53]; Bellgard,M.I. [54]; Kirschner,J. [55]; Flanigan,K.M. [56]; Straub,V. [57]; Bushby,K. [58]; Verschuuren,J. [59]; Aartsma-Rus,A. [60]; Beroud,C. [61]; Lochmuller,H. [62]

Trefwoorden

  1. a [63]
  2. ALL [64]
  3. an [65]
  4. analysi [66]
  5. analysis [67]
  6. article [68]
  7. Benefit [69]
  8. care [70]
  9. Clinical [71]
  10. data [72]
  11. Database [73]
  12. Databases [74]
  13. Ontwikkeling [75]
  14. Diagnostics [76]
  15. disease [77]
  16. Ziekten [78]
  17. Duchenne muscular dystrophy [79]
  18. electronic [80]
  19. Frequentie [81]
  20. Genetic [82]
  21. Genetic Therapy [83]
  22. global [84]
  23. im [85]
  24. Institute [86]
  25. IS [87]
  26. journal [88]
  27. Medicine [89]
  28. Muscular Dystrophies [90]
  29. Muscular dystrophy [91]
  30. Mutation [92]
  31. Neuromuscular disease [93]
  32. Neuromuscular Diseases [94]
  33. observed [95]
  34. organization [96]
  35. Planning [97]
  36. Point Mutation [98]
  37. Research [99]
  38. Research Support [100]
  39. SB - IM [101]
  40. Sites [102]
  41. STORAGE [103]
  42. Therapy [104]
  43. Type [105]
  44. UK [106]
  45. Universities [107]
  46. university [108]

Samenvatting:

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/ [109]). 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 mutat…
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Samenvatting

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)

Associated health topics:

Neuromusculaire aandoeningen [110]

Source URL:https://www.sciensano.be/nl/biblio/treat-nmd-dmd-global-database-analysis-more-7000-duchenne-muscular-dystrophy-mutations

Links
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