Bladen, Catherine LCatherine LBladenSalgado, DavidDavidSalgadoMonges, SoledadSoledadMongesFoncuberta, Maria EMaria EFoncubertaKekou, KyriakiKyriakiKekouKosma, KonstantinaKonstantinaKosmaDawkins, HughHughDawkinsLamont, LeanneLeanneLamontRoy, Anna JAnna JRoyChamova, TeodoraTeodoraChamovaGuergueltcheva, VelinaVelinaGuergueltchevaChan, SopheliaSopheliaChanKorngut, LawrenceLawrenceKorngutCampbell, CraigCraigCampbellDai, YiYiDaiWang, JenJenWangBarišić, NinaNinaBarišićBrabec, PetrPetrBrabecLahdetie, JaanaJaanaLahdetieWalter, Maggie CMaggie CWalterSchreiber-Katz, OliviaOliviaSchreiber-KatzKarcagi, VeronikaVeronikaKarcagiGarami, MartaMartaGaramiViswanathan, VenkatarmanVenkatarmanViswanathanBayat, FarhadFarhadBayatBuccella, FilippoFilippoBuccellaKimura, EnEnKimuraKoeks, ZaïdaZaïdaKoeksvan den Bergen, Janneke CJanneke Cvan den BergenRodrigues, MiriamMiriamRodriguesRoxburgh, RichardRichardRoxburghLusakowska, AnnaAnnaLusakowskaKostera-Pruszczyk, AnnaAnnaKostera-PruszczykZimowski, JanuszJanuszZimowskiSantos, RosárioRosárioSantosNeagu, ElenaElenaNeaguArtemieva, SvetlanaSvetlanaArtemievaRasic, Vedrana MilicVedrana MilicRasicVojinovic, DinaDinaVojinovicPosada, ManuelManuelPosadaBloetzer, ClemensClemensBloetzerJeannet, Pierre-YvesPierre-YvesJeannetJoncourt, FranziskaFranziskaJoncourtDíaz-Manera, JordiJordiDíaz-ManeraGallardo, EduardEduardGallardoKaraduman, A AyşeA AyşeKaradumanTopaloğlu, HalukHalukTopaloğluEl Sherif, RashaRashaEl SherifStringer, AngelaAngelaStringerShatillo, Andriy VAndriy VShatilloMartin, Ann SAnn SMartinPeay, Holly LHolly LPeayBellgard, Matthew IMatthew IBellgardKirschner, JanJanKirschnerFlanigan, Kevin MKevin MFlaniganStraub, VolkerVolkerStraubBushby, KateKateBushbyVerschuuren, JanJanVerschuurenAartsma-Rus, AnnemiekeAnnemiekeAartsma-RusBéroud, ChristopheChristopheBéroudLochmüller, HannsHannsLochmüller2024-10-242024-10-242015-04https://boris-portal.unibe.ch/handle/20.500.12422/140079Analyzing 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).enDMDDuchenne muscular dystrophyTREAT-NMDrare disease registries600 - Technology::610 - Medicine & healtharticle10.7892/boris.793162560425310.1002/humu.22758