Long‐read whole‐genome sequencing for the genetic diagnosis of dystrophinopathies
Annals of Clinical and Translational Neurology2020Vol. 7(10), pp. 2041–2046
Citations Over TimeTop 13% of 2020 papers
Zhiying Xie, Chengyue Sun, Siwen Zhang, Yilin Liu, Meng Yu, Yiming Zheng, Lingchao Meng, Anushree Acharya, Diana M. Cornejo-Sanchez, Gao Wang, Wei Zhang, Isabelle Schrauwen, Suzanne M. Leal, Zhaoxia Wang, Yun Yuan
Abstract
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 whole DMD gene sequencing. We finally identified a novel complex SV in DMD via long-read whole-genome sequencing. The variant consists of a large-scale (~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.
Related Papers
- Feline muscular dystrophy with dystrophin deficiency.(1989)
- → Pathological evaluation of rats carrying in-frame mutations in the dystrophin gene: a new model of Becker muscular dystrophy(2020)17 cited
- → Dystrophin-Related Protein in Becker Muscular Dystrophy.(1994)3 cited
- [Association between dystrophin and neuronal nitric oxide synthase in muscles of progressive muscular dystrophy].(2002)
- Muscular dystrophy in mice caused by two different alterations of dystrophin gene.(2001)