oa COL6A Mutations in Patients with Congenital Muscular Dystrophy

Introduction: Mutations in genes-encoding collagen VI-a chain are known to cause congenital muscular dystrophies, (CMDs). Aim: Screening for COL6A mutations in CMDs’ patients. Methods: WGS, Sanger sequencing, plasmids-construction, Western-blot and RT-PCR. Results: Missense and novel nonsense mutations in COL6A1 and COL6A2 were detected. The analysis revealed a decreased stability of the COL6A mutants as compared to wild-type. Conclusion: Collagen related muscular dystrophies may demonstrate the early presentation as of joints and bone involvement rather than of muscular weakness hence, likely may be misdiagnosed. Collagen VI muscular dystrophy was not identified in Qatari patients with muscular dystrophies, in our cohort.