The importance of genetic diagnosis for Duchenne muscular dystrophy.
The importance of genetic diagnosis for Duchenne muscular dystrophy.
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DOI：
10.1136/jmedgenet-2015-103387
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发表时间：
2016-03
影响因子：
4
通讯作者：
Bushby K
中科院分区：
文献类型：
--
作者：
Aartsma-Rus A;Ginjaar IB;Bushby K
杜氏肌营养不良症（DMD）和贝克尔肌营养不良症是由肌营养不良蛋白编码DMD基因突变引起的。大的缺失和重复是最常见的，但也发现了小的突变。正确的诊断对于计划生育和根据已公布的指南为患者提供适当的护理非常重要。随着DMD突变特异性疗法的开发，正确的诊断对于评估患者是否有资格接受治疗也很重要。这篇综述讨论了导致DMD的不同突变，可用于对疑似DMD的儿童进行基因诊断的诊断技术，以及在DMD新兴基因疗法的背景下进行特定基因诊断的重要性。
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under development for DMD, a correct diagnosis is now also important for assessing whether patients are eligible for treatments. This review discusses different mutations causing DMD, diagnostic techniques available for making a genetic diagnosis for children suspected of DMD and the importance of having a specific genetic diagnosis in the context of emerging genetic therapies for DMD.