Article
Whole-transcriptome sequencing in blood provides a diagnosis of spinal muscular atrophy with progressive myoclonic epilepsy.
Human mutation - 1 Jun 2017
Kernohan Kristin D, Frésard Laure, Zappala Zachary, Hartley Taila, Smith Kevin S, Wagner Justin, Xu Hongbin, McBride Arran, Bourque Pierre R, Consortium Care Rare Canada, Bennett Steffany A L, Dyment David A, Boycott Kym M, Montgomery Stephen B, Warman Chardon Jodi
Abstract excerpt
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 mutations; however, it will be a challenge to obtain disease-relevant tissue for RNA. Here, we describe an individual with a...
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