Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.

ABSTRACT: Next-generation sequencing (NGS) technologies have led to an increase in the diagnosis of heterogeneous genetic conditions. However, over 50% of patients with a genetically inherited disease are still without a diagnosis. In these cases, different hypotheses are usually postulated, including variants in novel genes or elusive mutations. Although the impact of copy number variants (CNVs) in neuromuscular disorders has been largely ignored to date, missed CNVs are predicted to have a major role in disease causation as some very large genes, such as the dystrophin gene, have prone-to-deletion regions. Since muscle tissues express several large disease genes, the presence of elusive CNVs needs to be comprehensively assessed following an accurate and systematic approach. In this multicenter coh

SUBMITTER: Giugliano T 

PROVIDER: S-EPMC6267442 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature