Abstract
The role of dystroglycan in neuromuscular disease is complex and not well understood.
Mutations in the human dystroglycan gene itself have only rarely been reported to
be associated with clinical semiology. We report on a child with developmental delay
who was found to have a deletion of 3p.21.31 to p21.2 of approximately 2.1 megabases—a
rare presentation probably due to a dystrophin-associated glycoprotein 1 (DAG1) gene mutation. In addition, she had mild calf muscle hypertrophy, mildly elevated
creatine phosphokinase, abnormal muscle biopsy with reduced α dystroglycan staining,
neuroimaging abnormalities in the form of white matter hyperintensities, and electroencephalography
with epileptiform activity. Our case report adds to the literature on the functional
consequence and phenotypic spectrum associated with a primary dystroglycanopathy due
to a DAG1 mutation.
Keywords
DAG1 gene mutation - developmental delay - raised creatine phosphokinase - MRI - brain
abnormality - epileptiform EEG
