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Ann Clin Transl Neurol. 2015 Dec 8;3(1):55-60. doi: 10.1002/acn3.267. eCollection 2016 Jan.

RNAseq analysis for the diagnosis of muscular dystrophy.

Author information

1
Division of Neurology Hospital for Sick Children Toronto Ontario Canada M5G A04; Program of Genetics and Genome Biology Hospital for Sick Children Toronto Ontario Canada M5G A04; Department of Paediatrics University of Toronto Toronto Ontario Canada M5G AO4.
2
Program of Genetics and Genome Biology Hospital for Sick Children Toronto Ontario Canada M5G A04; Department of Molecular Genetics University of Toronto Toronto Ontario Canada M5G AO4.
3
Analytic and Translational Genetics Unit Massachusetts General Hospital Boston Massachusetts 02114; Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge Massachusetts.
4
Program of Genetics and Genome Biology Hospital for Sick Children Toronto Ontario Canada M5G A04.
5
Pediatric Laboratory Medicine Hospital for Sick Children Toronto Ontario Canada M5G A04.
6
Program of Genetics and Genome Biology Hospital for Sick Children Toronto Ontario Canada M5G A04; Department of Paediatrics University of Toronto Toronto Ontario Canada M5G AO4; Department of Molecular Genetics University of Toronto Toronto Ontario Canada M5G AO4.
7
Program of Genetics and Genome Biology Hospital for Sick Children Toronto Ontario Canada M5G A04; Department of Molecular Genetics University of Toronto Toronto Ontario Canada M5G AO4; Pediatric Laboratory Medicine Hospital for Sick Children Toronto Ontario Canada M5G A04.
8
Division of Neurology Hospital for Sick Children Toronto Ontario Canada M5G A04; Program of Genetics and Genome Biology Hospital for Sick Children Toronto Ontario Canada M5G A04; Department of Paediatrics University of Toronto Toronto Ontario Canada M5G AO4; Department of Molecular Genetics University of Toronto Toronto Ontario Canada M5G AO4.

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.

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