An innovative test for the genotyping of difficult cases of DMD and a better pathophysiological approach

Italian researchers have developed, in conjunction with the Perkin-Elmer laboratory, a test based on RNA sequencing (RNA-seq) to detect and interpret the pathogenic nature of certain variants of the DMD gene encoding the dystrophin on simple urine samples:

  • the test analyzes DMD gene transcripts present in stem cells detectable in small amounts in urine;
  • the study of the expression profile of other proteins in these same cells also allows a better understanding of the physiopathology.

Such an approach could also be used for monitoring therapies such as exon skipping with antisense oligonucleotides.


RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing. Falzarano MS, Grilli A, Zia S, et al. HGG Adv. 2021 Aug 24;3(1):100054.