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Advances in Genetic Characterization and Genotype–Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era

by 1 and 1,2,*
1
Department of Medical Genetics, University of Alberta Faculty of Medicine and Dentistry, Edmonton, AB T6G 2H7, Canada
2
The Friends of Garrett Cumming Research & Muscular Dystrophy Canada HM Toupin Neurological Science Research Chair, Edmonton, AB T6G 2H7, Canada
*
Author to whom correspondence should be addressed.
J. Pers. Med. 2020, 10(3), 111; https://doi.org/10.3390/jpm10030111
Received: 10 August 2020 / Revised: 30 August 2020 / Accepted: 1 September 2020 / Published: 3 September 2020
Currently, Duchenne muscular dystrophy (DMD) and the related condition Becker muscular dystrophy (BMD) can be usually diagnosed using physical examination and genetic testing. While BMD features partially functional dystrophin protein due to in-frame mutations, DMD largely features no dystrophin production because of out-of-frame mutations. However, BMD can feature a range of phenotypes from mild to borderline DMD, indicating a complex genotype–phenotype relationship. Despite two mutational hot spots in dystrophin, mutations can arise across the gene. The use of multiplex ligation amplification (MLPA) can easily assess the copy number of all exons, while next-generation sequencing (NGS) can uncover novel or confirm hard-to-detect mutations. Exon-skipping therapy, which targets specific regions of the dystrophin gene based on a patient’s mutation, is an especially prominent example of personalized medicine for DMD. To maximize the benefit of exon-skipping therapies, accurate genetic diagnosis and characterization including genotype–phenotype correlation studies are becoming increasingly important. In this article, we present the recent progress in the collection of mutational data and optimization of exon-skipping therapy for DMD/BMD. View Full-Text
Keywords: Duchenne muscular dystrophy (DMD); exon-skipping therapies; next-generation sequencing (NGS); Sanger sequencing; multiplex ligation probe amplification (MLPA); multiplex polymerase chain reaction (PCR); comparative genomic hybridization array (CGH); viltolarsen; eteplirsen; golodirsen Duchenne muscular dystrophy (DMD); exon-skipping therapies; next-generation sequencing (NGS); Sanger sequencing; multiplex ligation probe amplification (MLPA); multiplex polymerase chain reaction (PCR); comparative genomic hybridization array (CGH); viltolarsen; eteplirsen; golodirsen
MDPI and ACS Style

Sheikh, O.; Yokota, T. Advances in Genetic Characterization and Genotype–Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era. J. Pers. Med. 2020, 10, 111.

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