Whole‐transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy

At least 15% of the disease‐causing mutations affect mRNA splicing. Many splicing mutations are missed in a clinical setting due to limitations of in silico prediction algorithms or their location in noncoding regions. Whole‐transcriptome sequencing is a promising new tool to identify these mutation...

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Veröffentlicht in:	Human mutation 2017-06, Vol.38 (6), p.611-614
Hauptverfasser:	Kernohan, Kristin D., Frésard, Laure, Zappala, Zachary, Hartley, Taila, Smith, Kevin S., Wagner, Justin, Xu, Hongbin, McBride, Arran, Bourque, Pierre R., Consortium, Care4Rare Canada, Bennett, Steffany A. L., Dyment, David A., Boycott, Kym M., Montgomery, Stephen B., Warman Chardon, Jodi
Format:	Artikel
Sprache:	eng
Schlagworte:	Acid Ceramidase - blood Acid Ceramidase - genetics Algorithms ASAH1 Blood Child, Preschool DNA sequencing Epilepsy Gene expression Genetic disorders Humans Leukocytes Male Muscular Atrophy, Spinal - blood Muscular Atrophy, Spinal - complications Muscular Atrophy, Spinal - genetics Mutation Myoclonic Epilepsies, Progressive - blood Myoclonic Epilepsies, Progressive - complications Myoclonic Epilepsies, Progressive - genetics Neurological disorders Neuromuscular diseases next‐generation sequencing Pathology, Molecular RNA Splicing - genetics Sequence Analysis, DNA Spinal muscular atrophy spinal muscular atrophy with progressive myoclonic epilepsy (SMA‐PME) Splicing Transcriptome - genetics transcriptome sequencing
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