EMQN best practice guidelines for genetic testing in dystrophinopathies.
EMQN best practice guidelines for genetic testing in dystrophinopathies.
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DOI：
10.1038/s41431-020-0643-7
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发表时间：
2020-09
期刊：
影响因子：
--
通讯作者：
Ferlini A
中科院分区：
文献类型：
--
作者：
Fratter C;Dalgleish R;Allen SK;Santos R;Abbs S;Tuffery-Giraud S;Ferlini A
肌营养不良症是X连锁疾病，包括杜氏肌营养不良症和贝克尔肌营养不良症，由于DMD基因变异。近年来，新的遗传技术的应用和新的个性化药物的可用性影响了肌营养不良蛋白病的诊断基因检测。因此，这些欧洲最佳实践指南的基因检测在肌营养不良蛋白病已经产生更新以前的指南在2010年出版。这些指南总结了目前推荐的DMD基因分析技术和方法，包括检测一个或多个外显子的缺失和重复，小变异检测和RNA分析。然后概述了用于诊断、携带者检测和产前诊断（包括非侵入性产前诊断）的基因检测策略。提供了序列变异注释和解释的指南，随后是报告所有类别测试结果的建议。最后，非典型的结果（如非连续缺失和双重DMD变异），个性化医疗和临床试验的影响和偶然的结果（在没有考虑或怀疑肌营养不良蛋白病的临床诊断的患者中识别DMD基因变异）进行了讨论。
Dystrophinopathies are X-linked diseases, including Duchenne muscular dystrophy and Becker muscular dystrophy, due to DMD gene variants. In recent years, the application of new genetic technologies and the availability of new personalised drugs have influenced diagnostic genetic testing for dystrophinopathies. Therefore, these European best practice guidelines for genetic testing in dystrophinopathies have been produced to update previous guidelines published in 2010. These guidelines summarise current recommended technologies and methodologies for analysis of the DMD gene, including testing for deletions and duplications of one or more exons, small variant detection and RNA analysis. Genetic testing strategies for diagnosis, carrier testing and prenatal diagnosis (including non-invasive prenatal diagnosis) are then outlined. Guidelines for sequence variant annotation and interpretation are provided, followed by recommendations for reporting results of all categories of testing. Finally, atypical findings (such as non-contiguous deletions and dual DMD variants), implications for personalised medicine and clinical trials and incidental findings (identification of DMD gene variants in patients where a clinical diagnosis of dystrophinopathy has not been considered or suspected) are discussed.
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影响因子：
12.3
作者：
Dalgleish, Raymond;Flicek, Paul;Maglott, Donna R.
通讯作者：
Maglott, Donna R.
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2
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Ray, Peter N
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通讯作者：
Weiss, Robert B.
影响因子：
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作者：
Antoury L;Hu N;Balaj L;Das S;Georghiou S;Darras B;Clark T;Breakefield XO;Wheeler TM
通讯作者：
Wheeler TM
影响因子：
7
作者：
Ankala, Arunkanth;Kohn, Jordan N.;Hegde, Madhuri R.
通讯作者：
Hegde, Madhuri R.