Open AccessRNA seq analysis for the diagnosis of muscular dystrophy
Author(s) -
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.
Publication year - 2016
Publication title -
annals of clinical and translational neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.824
H-Index - 42
ISSN - 2328-9503
DOI - 10.1002/acn3.267
Subject(s) - muscular dystrophy , exome sequencing , transcriptome , medicine , gene , mutation , genetics , computational biology , exome , disease , genetic diagnosis , neuromuscular disease , bioinformatics , gene expression , biology , pathology
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 RNA seq‐based transcriptome analyses. The implications of our data are that noncoding mutations likely comprise an important source of unresolved genetic disease and that RNA seq is a powerful platform for detecting such mutations.