Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene

Abstract

Muscular dystrophy-dystroglycanopathy is a heterogeneous group of inherited muscular dystrophies caused by glycosylation defects associated with different mutations. The main finding of the disease is disruption of the binding of cellular alpha-dystroglycan to its extracellular matrix ligands. O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 is one of the pathogenic genes involved in glycosylation defects of alpha-dystroglycan. Herein, we report a patient diagnosed with muscular dystrophy-dystroglycanopathy 3 with the determination of a compound heterozygote novel mutation on O-mannose beta-1,2-N-acetylglucosaminyltransferase 1 gene, which was not reported before in literature.