Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy

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• 作者：Marius Kuhn ; Dieter Gläser ; Pushpa Raj Joshi ; Stephan Zierz…
• 关键词：Limb ; girdle muscular dystrophies ; Gene panel ; Targeted next ; generation sequencing
• 刊名：Journal of Neurology
• 出版年：2016
• 出版时间：April 2016
• 年：2016
• 卷：263
• 期：4
• 页码：743-750
• 全文大小：454 KB
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• 作者单位：Marius Kuhn (1) (2)
  Dieter Gläser (1)
  Pushpa Raj Joshi (3)
  Stephan Zierz (3)
  Stephan Wenninger (4)
  Benedikt Schoser (4)
  Marcus Deschauer (3) (5)
  
  1. Genetikum, Neu-Ulm, Germany
  2. Division of Neurophysiology, Universität Ulm, Ulm, Germany
  3. Klinik und Poliklinik für Neurologie, Universität Halle-Wittenberg, Halle, Germany
  4. Friedrich-Baur-Institut, Neurologische Klinik, Ludwig-Maximilians-Universität München, Munich, Germany
  5. Klinik und Poliklinik für Neurologie, Technische Universität München, Klinikum rechts der Isar, Ismaninger Str. 22, 81675, Munich, Germany
  
• 刊物类别：Medicine
• 刊物主题：Medicine & Public Health
  Neurology
  Neurosciences
  Neuroradiology
  
• 出版者：Springer Berlin / Heidelberg
• ISSN：1432-1459

文摘

Limb-girdle muscular dystrophies (LGMDs) are genetically heterogeneous and the diagnostic work-up including conventional genetic testing using Sanger sequencing remains complex and often unsatisfactory. We performed targeted sequencing of 23 LGMD-related genes and 15 genes in which alterations result in a similar phenotype in 58 patients with genetically unclassified LGMDs. A genetic diagnosis was possible in 19 of 58 patients (33 %). LGMD2A was the most common form, followed by LGMD2L and LGMD2I. In two patients, pathogenic mutations were identified in genes that are not classified as LGMD genes (glycogen branching enzyme and valosin-containing protein). Thus, a focused next-generation sequencing-based gene panel is a rather satisfactory tool for the diagnosis in unclassified LGMDs.