Coexistence of a Heterozygous Caveolin-3 Deletion and a Novel Dystrophin Gene Mutation in a Duchenne Muscular Dystrophy Patient

Abstract

Inherited muscular abnormalities are debilitating disorders that greatly diminish the quality of life in affected individuals. Mutations in proteins such as dystrophin and caveolin, which together with other proteins form structural connections between the cytoskeleton and the extracellular matrix, are frequently the culprit of muscular dystrophies. In this case report, we describe a patient with a novel pathogenic dystrophin mutation co-existing with a caveolin-3 deletion. While genetically composed of this unique combination, the patient phenotypically presented with a primary clinical manifestation of Duchenne muscular dystrophy (DMD) in contrast to other cases of dual mutations in dystrophin and dystrophin-associated proteins.

Keywords: caveolin 3; duchenne; dystrophin; muscular dystrophy; myopathy; pediatric.