Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary-Center, Retrospective Experience

ARDIÇLI D., Haliloglu G., ALİKAŞİFOĞLU M., Topaloglu H.

NEUROPEDIATRICS, vol.50, no.1, pp.41-45, 2019 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 50 Issue: 1
  • Publication Date: 2019
  • Doi Number: 10.1055/s-0038-1675626
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.41-45


Up to 15% of Duchenne's muscular dystrophy (DMD) is caused by nonsense mutations (nm-DMD). In this study, we aimed to evaluate the age at diagnosis, presentations, and diagnostic approach in 43 nm-DMD boys. The mean age at presentation and diagnosis was 3 years and 4 years, respectively. Presenting signs or symptoms were asymptomatic creatine kinase (CK) elevation (40%), muscle weakness (30%), motor delay (18%), and walking difficulties (12%). Multiplex polymerase chain reaction (PCR) of the most commonly deleted exons were negative (n = 17), and muscle biopsy was consistent with dystrophinopathy (n = 24). In all patients, multiplex ligation-dependent probe amplification (MLPA) followed by direct sequencing of all exons, revealed nm-DMD. Mean age at genetic diagnosis was 6 years 8 months. Patients were evaluated in twotime periods, between 2006 and 2011 (Group I: n = 10) and 2011 and 2017 (Group II: n = 33). The mean age at diagnosis/genetic confirmation in Group I and in Group 0 was 3 years 9 months/10 years, and 4 years 1 month/5 years 9 months, respectively. Most frequently performed first step diagnostic tests in Group I and Group II were muscle biopsy and MLPA.