The UMD TREAT-NMD DMD mutations database

The UMD-TREAT-NMD DMD database has been set up in a joined international effort through the TREAT-NMD network to provide up-to-date information about mutations of the DMD gene identified in patients with dystrophinopathies worldwide. Published and unpublished molecular data are collected from more than 30 national registries. The database aims at making the information readily accessible to non-commercial users (geneticists, clinicians or researchers) interested in the genetic variations of the DMD gene, the clinics of dystrophinopathies, or the development of new therapeutic approaches (for commercial use, please contact us). The database of DMD mutations was built using the ‘Universal Mutation Database’ tool.

Mutation entries

Only fully characterized mutations (i.e. accurate delineation of large rearrangements) in expressing individuals (male patients or symptomatic carriers) are entered in the database. When several affected individuals are identified in the same family, one entry is created for each genotyped patient to allow subsequent studies of intra-familial clinical variability. For each mutation, information is provided:

  1. - at the gene level: exon and codon number, wild type and mutant codon, mutation type (deletions, duplications or point mutations), mutation name,  
  2. - at the protein level: wild type and mutant amino acid, predicted effect on the reading frame…

Additional information is available:

  1. - phenotypic group (to distinguish between the different clinical presentations of dystrophinopathies),
  2. - results of dystrophin analysis by immunofluorescence and western blot with the three Dys1, Dys2, and Dys3 antibodies,
  3. - transmission (de novo, familial, germinal/somatic mosaïcism)

Searchable tools

  1. SEARCH: “Type and number of mutation” gives an overview of all reported mutations in the database according to mutation types, “Mutations by exon” allows to access to the list of all reported mutations in a selected exon, “I found a mutation” searches in the database for a specific mutation that you found in order to check if it has been previously reported, and “Free search” gives access to a quick search and an advanced search interface to allow more specific queries.
  2. LARGE LESIONS: six different types of analyses are available to help in deletions and duplications analysis. Results are displayed either as graphics or lists.
  3. SMALL LESIONS: Fifteen types of analyses are available to help in the analysis of nonsense, frameshifting, and splice site mutations of the DMD gene. Results are displayed either as graphics or lists.
  4. THERAPEUTIC APPROACHES: two functions “exon-skipping approach” and “nonsense read-through approach” are available to evaluate the number of the patients eligible for therapeutic strategies based on specific gene defect.
  5. REFERENCE: allows the selection of references (publications, posters, personal communications ...) included in the UMD-DMD database.

Copyright
The UMD-TREAT-NMD DMD Locus Specific Databases constitute the intellectual property of INSERM UMR_S910. Any unauthorized copying, storage or distribution of this material without written permission from the curators would lead to copyright infringement with possible ensuing litigation. For further details, please refer to Directive 96/9/EC of the European Parliament and of the Council of 11 March 1996 on the legal protection of databases.