The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations.
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TREAT-NMD DMD 全球数据库：分析 7,000 多个杜氏肌营养不良症突变。
DOI：
10.1002/humu.22758
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发表时间：
2015-04
期刊：
影响因子：
3.9
通讯作者：
Lochmueller, Hanns
中科院分区：
文献类型：
--
作者：
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, Sophelia;Korngut, Lawrence;Campbell, Craig;Dai, Yi;Wang, Jen;Barisic, Nina;Brabec, Petr;Lahdetie, Jaana;Walter, Maggie C.;Schreiber-Katz, Olivia;Karcagi, Veronika;Garami, Marta;Viswanathan, Venkatarman;Bayat, Farhad;Buccella, Filippo;Kimura, En;Koeks, Zaida;van den Bergen, Janneke C.;Rodrigues, Miriam;Roxburgh, Richard;Lusakowska, Anna;Kostera-Pruszczyk, Anna;Zimowski, Janusz;Santos, Rosario;Neagu, Elena;Artemieva, Svetlana;Rasic, Vedrana Milic;Vojinovic, Dina;Posada, Manuel;Bloetzer, Clemens;Jeannet, Pierre-Yves;Joncourt, Franziska;Diaz-Manera, Jordi;Gallardo, Eduard;Karaduman, A. Ayse;Topaloglu, Haluk;El Sherif, Rasha;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;Lochmueller, Hanns
分析导致杜氏肌营养不良症（DMD）的患者特异性突变的类型和频率是诊断、基础科研、试验计划和改善临床护理的宝贵工具。基因座特异性数据库允许收集、组织、存储和分析疾病的遗传变异。在这里，我们描述了ENU-NMD DMD全球数据库（http：//umd.be/DMD_DMD/）的开发和分析。我们分析了数据库中7,149个DMD突变的遗传数据。共观察到5，682个大突变（占总突变的80%），其中4，894个（86%）为缺失（1个外显子或更大），784个（14%）为重复（1个外显子或更大）。有1，445个小突变（小于1个外显子，占所有突变的20%），其中358个（25%）是小缺失，132个（9%）是小插入，199个（14%）影响剪接位点。点突变总数为756个（52%的小突变），其中726个（50%）为无义突变，30个（2%）为错义突变。最后，观察到22个（0.3%）中间内含子突变。此外，在数据库中发现了可能从DMD的新型遗传疗法中获益的突变，包括终止密码子通读疗法（占总突变的10%）和外显子跳跃疗法（占总突变的80%和55%）。
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).
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影响因子：
9.8
作者：
Krawczak, M;Ball, EV;Cooper, DN
通讯作者：
Cooper, DN
影响因子：
5.1
作者：
McClorey, G.;Moulton, H. M.;Wilton, S. D.
通讯作者：
Wilton, S. D.
影响因子：
3.9
作者：
Béroud, C;Hamroun, D;Claustres, M
通讯作者：
Claustres, M
DOI：
10.1016/j.pmr.2012.08.003
发表时间：
2012-11-01
影响因子：
1.7
作者：
Hoffman, Eric P.;Reeves, Erica;Bushby, Kate
通讯作者：
Bushby, Kate
DOI：
10.1007/978-90-481-2813-6_2
发表时间：
2009-01-01
期刊：
INHERITED NEUROMUSCULAR DISEASES: TRANSLATION FROM PATHMECHANISMS TO THERAPIES
影响因子：
--
作者：
Sejerson, Thomas;Bushby, Kate
通讯作者：
Bushby, Kate