A dynamic trinucleotide repeat (TNR) expansion in the DMD gene

作者：Kekou Kyriaki^*; Sofocleous Christalena; Papadimas George; Petichakis Dimitris; Svingou Maria; Pons Roser Maria; Vorgia Pelagia; Gika Artemis; Kitsiou Tzeli Sophia; Kanavakis Emmanuel

来源：Molecular and Cellular Probes, 2016, 30(4): 254-260.

DOI：10.1016/j.mcp.2016.07.001

• Dystrophin
• BMD
• DMD
• Manifesting carriers
• Trinucleotide expansion

Dystrophinopathies are allelic X-linked myopathies caused by large deletions/duplications or small lesions along the DMD gene. An unexpected dynamic trinucleotide (GAA) expansion, ranging from 59 to 82 pure GAA repeats, within the DMD intron 62, was revealed to segregate through three family generations. From the pedigree, two female patients were referred for DMD investigation due to chronic myopathy and a muscle biopsy compatible with dystrophinopathy. As the size of the GAA repeat is limited to 11-33 within the general population our findings may provide a novel insight towards a Trinucleotide Repeat Expansion. Whether this TNR has an impact on the reported phenotype remains to be resolved.

• 出版日期2016-8