UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene
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DOI：
10.1002/humu.22015
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发表时间：
2012-03-01
期刊：
影响因子：
3.9
通讯作者：
Krahn, Martin
中科院分区：
文献类型：
--
作者：
Blandin, Gaelle;Beroud, Christophe;Krahn, Martin
异常铁蛋白基因（DYSF）的突变导致骨骼肌中异常铁蛋白的完全或部分缺失，并且是异常铁蛋白病的起源，异常铁蛋白病是一种罕见的常染色体隐性遗传神经肌肉疾病。为了更好地了解DYSF突变谱，并可能将患者纳入未来的治疗性临床试验，我们建立了Dysferlin通用突变数据库（UMD-DYSF），这是一个使用UMD (R)软件开发的位点特异性数据库。UMD-DYSF的主要目标是为DYSF序列变异分析提供最新的突变数据汇编和相关的交互工具，用于诊断和研究目的。特别是，特定的算法可以促进解释新发现的内含子，错义或等义外显子序列变异，这是在异常铁蛋白病的遗传诊断中反复遇到的问题。UMD-DYSF v1.0可在www.umd.be/DYSF/免费获得。它总共包含742个突变条目，对应于全球558名诊断为异ferlinopathy的患者中确定的266种不同的致病突变。本文基于迄今为止文献报道的所有DYSF致病突变，并使用UMD-DYSF提供的主要生物信息学工具，首次对dysferlin突变谱进行了全面分析。(C) 2011 Wiley-Liss, Inc。[j] .中国科学：地球科学，2012。(C) 2012 Wiley期刊公司
Mutations in the dysferlin gene (DYSF) lead to a complete or partial absence of the dysferlin protein in skeletal muscles and are at the origin of dysferlinopathies, a heterogeneous group of rare autosomal recessive inherited neuromuscular disorders. As a step towards a better understanding of the DYSF mutational spectrum, and towards possible inclusion of patients in future therapeutic clinical trials, we set up the Universal Mutation Database for Dysferlin (UMD-DYSF), a Locus-Specific Database developed with the UMD (R) software. The main objective of UMD-DYSF is to provide an updated compilation of mutational data and relevant interactive tools for the analysis of DYSF sequence variants, for diagnostic and research purposes. In particular, specific algorithms can facilitate the interpretation of newly identified intronic, missense- or isosemantic-exonic sequence variants, a problem encountered recurrently during genetic diagnosis in dysferlinopathies. UMD-DYSF v1.0 is freely accessible at www.umd.be/DYSF/. It contains a total of 742 mutational entries corresponding to 266 different disease-causing mutations identified in 558 patients worldwide diagnosed with dysferlinopathy. This article presents for the first time a comprehensive analysis of the dysferlin mutational spectrum based on all compiled DYSF disease-causing mutations reported in the literature to date, and using the main bioinformatics tools offered in UMD-DYSF. (C) 2011 Wiley-Liss, Inc. Hum Mutat 33:E2317E2331, 2012. (C) 2012 Wiley Periodicals, Inc.