A dynamic trinucleotide repeat (TNR) expansion in the DMD gene. Issue 4 (August 2016) - Kekou, Kyriaki
Abstract: 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. Highlights: Identification of a dynamic trinucleotide expansion in the DMD gene. Presentation of two female patients with myopathy and an expanded allele in the DMD intron 62. Molecular characterization of the expanded DMD region.