The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations - Archive ouverte HAL Access content directly
Journal Articles Human Mutation Year : 2015

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations

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Catherine Bladen
  • Function : Author
Soledad Monges
  • Function : Author
Maria E Foncuberta
  • Function : Author
Kyriaki Kekou
  • Function : Author
Konstantina Kosma
  • Function : Author
Hugh Dawkins
  • Function : Author
  • PersonId : 947543
Leanne Lamont
  • Function : Author
Anna Roy
  • Function : Author
Teodora Chamova
  • Function : Author
Velina Guergueltcheva
  • Function : Author
Sophelia Chan
  • Function : Author
Lawrence Korngut
  • Function : Author
Craig Campbell
  • Function : Author
Yi Dai
  • Function : Author
Jen Wang
  • Function : Author
Nina Barišić
  • Function : Author
Petr Brabec
  • Function : Author
Jaana Lahdetie
  • Function : Author
Olivia Schreiber-Katz
  • Function : Author
Veronika Karcagi
  • Function : Author
Marta Garami
  • Function : Author
Venkatarman Viswanathan
  • Function : Author
Farhad Bayat
  • Function : Author
Filippo Buccella
  • Function : Author
En Kimura
  • Function : Author
Zaïda Koeks
  • Function : Author
Jan van den Bergen
  • Function : Author
Miriam Rodrigues
  • Function : Author
Richard Roxburgh
  • Function : Author
Anna Lusakowska
Anna Kostera-Pruszczyk
  • Function : Author
Jan Zimowski
  • Function : Author
Rosário Santos
  • Function : Author
Elena Neagu
  • Function : Author
Svetlana Artemieva
  • Function : Author
Vedrana Milic Rasic
  • Function : Author
Dina Vojinovic
  • Function : Author
Clemens Bloetzer
  • Function : Author
Pierre-Yves Jeannet
  • Function : Author
Franziska Joncourt
  • Function : Author
Jordi Díaz-Manera
  • Function : Author
Eduard Gallardo
  • Function : Author
a Ayşe Karaduman
  • Function : Author
Haluk Topaloğlu
  • Function : Author
Rasha El Sherif
  • Function : Author
Angela Stringer
  • Function : Author
Andriy V Shatillo
  • Function : Author
Ann S Martin
  • Function : Author
Holly L Peay
  • Function : Author
Matthew I Bellgard
  • Function : Author
Jan Kirschner
  • Function : Author
Kevin M Flanigan
  • Function : Author
Volker Straub
  • Function : Author
  • PersonId : 915050
Jan Verschuuren
  • Function : Author
Annemieke Aartsma-Rus
  • Function : Author
  • PersonId : 874763
Maria E. Foncuberta
  • Function : Author
Maggie C. Walter
  • Function : Author
A. Ayşe Karaduman
  • Function : Author
Andriy V. Shatillo
  • Function : Author
Ann S. Martin
  • Function : Author
Holly L. Peay
  • Function : Author
Matthew I. Bellgard
  • Function : Author
Kevin M. Flanigan
  • Function : Author

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).

Dates and versions

hal-01681769 , version 1 (11-01-2018)

Identifiers

Cite

Catherine Bladen, David Salgado, Soledad Monges, Maria E Foncuberta, Kyriaki Kekou, et al.. The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations. Human Mutation, 2015, 36 (4), pp.395 - 402. ⟨10.1002/humu.22758⟩. ⟨hal-01681769⟩

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