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

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 resul...

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Bibliographic Details
Published in:Journal of neurology 2016-04, Vol.263 (4), p.743-750
Main Authors: Kuhn, Marius, Gläser, Dieter, Joshi, Pushpa Raj, Zierz, Stephan, Wenninger, Stephan, Schoser, Benedikt, Deschauer, Marcus
Format: Article
Language:English
Subjects:
Adult
Aged
Biopsy
DNA Mutational Analysis - methods
Female
Genes
Genetic testing
Genotype & phenotype
Germany
High-Throughput Nucleotide Sequencing - methods
Humans
Male
Medicine
Medicine & Public Health
Middle Aged
Muscular Dystrophies, Limb-Girdle - genetics
Muscular dystrophy
Mutation
Neurology
Neuroradiology
Neurosciences
Original Communication
Young Adult
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Summary: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.
ISSN:0340-5354
1432-1459
DOI:10.1007/s00415-016-8036-0