Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.

ABSTRACT:

Background

Up to 7% of patients with Duchenne muscular dystrophy (DMD) or Becker muscular dystrophy (BMD) remain genetically undiagnosed after routine genetic testing. These patients are thought to carry deep intronic variants, structural variants or splicing alterations not detected through multiplex ligation-dependent probe amplification or exome sequencing.

Methods

RNA was extracted from seven muscle biopsy samples of patients with genetically undiagnosed DMD/BMD after routine genetic diagnosis. RT-PCR of the DMD gene was performed to detect the presence of alternative transcripts. Droplet digital PCR and whole-genome sequencing were also performed in some patients.

Results

We identified an alteration in the mRNA level in all the patients. We detected three

SUBMITTER: Segarra-Casas A 

PROVIDER: S-EPMC10313949 | biostudies-literature | 2023 Jun

REPOSITORIES: biostudies-literature