Informace o publikaci

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

Autoři	BLADEN Catherine L. SALGADO David MONGES Soledad FONCUBERTA Maria E. KEKOU Kyriaki KOSMA Konstantina DAWKINS Hugh LAMONT Leanne ROY Anna J. CHAMOVA Teodora GUERGUELTCHEVA Velina CHAN Sophelina KORNGUT Lawrence CAMPBELL Craig DAI Yi WANG Jen BARIŠIĆ Nina BRABEC Petr LAHDETIE Jaana WALTER Maggie C. SCHREIBER-KATZ Olivia KARCAGI Veronika GARAMI Marta VISWANATHAN Venkatarmn BAYAT Farhad BUCCELLA Filippo KIMURA En KOEKS Zaida BERGEN Janneke C. van den RODRIGUES Miriam ROXBURGH Richard LUSAKOWSKA Anna KOSTERA-PRUSZCZYK Anna ZIMOWSKI Janusz SANTOS Rosário NEAGU Elena ARTEMIEVA Svetlana RASIC Vedrana M. VOJINOVIC Dina POSADA Manuel BLOETZER CClemens JEANNET Pierre-Yves JONCOURT Franziska DIAZ-MANERA Jordi GALLARDO Eduard KARADUMAN Ayse A. TOPALOGLU Haluk SHERIF Rasha El. STRINGER Angela SHATILLO Andriy V. MARTIN Ann S. PEAY Holly L. BELLGARD Matthew I. KIRSCHNER Jan FLANIGAN Kevin M. STRAUB Volker BUSHBY Kate VERSCHUUREN Jan AARTSMA-RUS Annemieke BEROUD Christophe LOCHMULLER Hanns
Rok publikování	2015
Druh	Článek v odborném periodiku
Časopis / Zdroj	Human Mutation
Fakulta / Pracoviště MU	Lékařská fakulta
Citace
Doi	http://dx.doi.org/10.1002/humu.22758
Obor	Genetika a molekulární biologie
Klíčová slova	DMD; Duchenne muscular dystrophy; TREAT-NMD; rare disease registries
Popis	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 (). 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).