Related Experiment Video
Updated: Feb 17, 2026
Characterizing Exon Skipping Efficiency in DMD Patient Samples in Clinical Trials of Antisense Oligonucleotides
Published on: May 7, 2020
[Analysis of 12 patients with novel mutations of Dystrophin gene]
Xiaoxin Xu1, Yang Liu, Yuchun Pan
1Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518048, China.
Objective:
To study the characteristics, location, and amino acid changes of novel mutations of the Dystrophin gene.
Methods:
Twelve patients in whom no deletion or duplication of the Dystrophin gene was detected were analyzed with next-generation sequencing. Fifty healthy adult males were recruited as the controls.
Results:
All patients were detected with mutations of the Dystrophin gene, which included c.33C>G, c.583C>T, c.1333C>T, c.2593C>T, c.5731A>T, c.7288G>T, c.2803+1G>T, c.10034G>A, c.4289A>G, c.1905_906delAG, c.5017delC, c.5768_5771delAAGA, and c.6261_6262insA. No similar mutations were found among the controls.
Conclusion:
Our data has enriched the mutation spectrum of the Dystrophin gene and may provide an important basis for genetic diagnosis.
