Bladen, Catherine LSalgado, DavidMonges, SoledadFoncuberta, Maria EKekou, KyriakiKosma, KonstantinaDawkins, HughLamont, LeanneRoy, Anna JChamova, TeodoraGuergueltcheva, VelinaChan, SopheliaKorngut, LawrenceCampbell, CraigDai, YiWang, JenBarišić, NinaBrabec, PetrLähdetie, JaanaWalter, Maggie CSchreiber-Katz, OliviaKarcagi, VeronikaGarami, MartaViswanathan, VenkatarmanBayat, FarhadBuccella, FilippoKimura, EnKoeks, Zaïdavan den Bergen, Janneke CRodrigues, MiriamRoxburgh, RichardLusakowska, AnnaKostera-Pruszczyk, AnnaZimowski, JanuszSantos, RosárioNeagu, ElenaArtemieva, SvetlanaRasic, Vedrana MilicVojinovic, DinaPosada De la Paz, ManuelBloetzer, ClemensJeannet, Pierre-YvesJoncourt, FranziskaDíaz-Manera, JordiGallardo, EduardKaraduman, A AyşeTopaloğlu, HalukEl Sherif, RashaStringer, AngelaShatillo, Andriy VMartin, Ann SPeay, Holly LBellgard, Matthew IKirschner, JanFlanigan, Kevin MStraub, VolkerBushby, KateVerschuuren, JanAartsma-Rus, AnnemiekeBéroud, ChristopheLochmüller, Hanns2023-03-072023-03-072015-04Hum Mutat. 2015 Apr;36(4):395-402.http://hdl.handle.net/20.500.12105/15580Analyzing 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).engVoRhttp://creativecommons.org/licenses/by-nc-nd/4.0/DMDDuchenne muscular dystrophyTREAT-NMDRare disease registriesDatabases, GeneticMutationDystrophinHumansMuscular Dystrophy, DuchenneRegistriesAttribution-NonCommercial-NoDerivatives 4.0 Internacional25604253364395-40210.1002/humu.227581098-1004Human mutationopen access