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- Title
RNAseq analysis for the diagnosis of muscular dystrophy.
- Authors
Gonorazky, Hernan; Liang, Minggao; Cummings, Beryl; Lek, Monkol; Micallef, Johann; Hawkins, Cynthia; Basran, Raveen; Cohn, Ronald; Wilson, Michael D.; MacArthur, Daniel; Marshall, Christian R.; Ray, Peter N.; Dowling, James J.
- Abstract
The precise genetic cause remains elusive in nearly 50% of patients with presumed neurogenetic disease, representing a significant barrier for clinical care. This is despite significant advances in clinical genetic diagnostics, including the application of whole-exome sequencing and next-generation sequencing-based gene panels. In this study, we identify a deep intronic mutation in the DMD gene in a patient with muscular dystrophy using both conventional and RNAseq-based transcriptome analyses. The implications of our data are that noncoding mutations likely comprise an important source of unresolved genetic disease and that RNAseq is a powerful platform for detecting such mutations.
- Subjects
RNA sequencing; MUSCULAR dystrophy diagnosis; NEUROLOGICAL disorders -- Genetic aspects; GENETIC mutation; GENETIC transcription
- Publication
Annals of Clinical & Translational Neurology, 2016, Vol 3, Issue 1, p55
- ISSN
2328-9503
- Publication type
Article
- DOI
10.1002/acn3.267