Clinical and genetic interpretation of uncertain DMD missense variants: evidence from mRNA and protein studies.

ABSTRACT:

Background

Pathogenic missense variants in the dystrophin (DMD) gene are rarely reported in dystrophinopathies. Most DMD missense variants are of uncertain significance and their pathogenicity interpretation remains complicated. We aimed to investigate whether DMD missense variants would cause aberrant splicing and re-interpret their pathogenicity based on mRNA and protein studies.

Methods

Nine unrelated patients who had an elevated serum creatine kinase level with or without muscle weakness were enrolled. They underwent a detailed clinical, imaging, and pathological assessment. Routine genetic testing and muscle-derived mRNA and protein studies of dystrophin and sarcoglycan genes were performed in them.

Results

Three of the 9 patients presented with a Duchenne muscul

SUBMITTER: Xie Z 

PROVIDER: S-EPMC10941385 | biostudies-literature | 2024 Mar

REPOSITORIES: biostudies-literature