Alu-Mediated Insertions in the DMD Gene: A Difficult Puzzle to Interpret Clinically.

ABSTRACT: Disrupting variants in the DMD gene are associated with Duchenne or Becker muscular dystrophy (DMD/BMD) or with hyperCKemia, all of which present very different degrees of clinical severity. The clinical phenotypes of these disorders could not be distinguished in infancy or early childhood. Accurate phenotype prediction based on DNA variants may therefore be required in addition to invasive tests, such as muscle biopsy. Transposon insertion is one of the rarest mutation types. Depending on their position and characteristics, transposon insertions may affect the quality and/or quantity of dystrophin mRNA, leading to unpredictable alterations in gene products. Here, we report the case of a three-year-old boy showing initial skeletal muscle involvement in whom we characterized a transp

SUBMITTER: Torella A 

PROVIDER: S-EPMC10252317 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature