Journal
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
Volume 7, Issue 10, Pages 2041-2046Publisher
WILEY
DOI: 10.1002/acn3.51201
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Funding
- Beijing Municipal Science and Technology Commission [Z191100006619034]
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The precise genetic diagnosis of dystrophinopathies can be challenging, largely due to rare deep intronic variants and more complex structural variants (SVs). We report on the genetic characterization of a dystrophinopathy patient. He remained without a genetic diagnosis after routine genetic testing, dystrophin protein and mRNA analysis, and short- and long-read wholeDMDgene sequencing. We finally identified a novel complex SV inDMDvia long-read whole-genome sequencing. The variant consists of a large-scale (similar to 1Mb) inversion/deletion-insertion rearrangement mediated by LINE-1s. Our study shows that long-read whole-genome sequencing can serve as a clinical diagnostic tool for genetically unsolved dystrophinopathies.
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