Characterisation of a novel cardiac phenotype in patients with GFPT1 or DPAGT1 mutations

Background Mutations in the GFPT1 and DPAGT1 genes, which encode enzymes associated with roles in protein N-linked glycosylation, have been recently identified in a rare subgroup of patients with congenital myasthenic syndromes (CMSs). These mutations are inherited in an autosomal recessive pattern, and the mechanism of impaired neuromuscular transmission may be acetylcholine receptor (AChR) deficiency due to impaired (AChR) subunit glycosylation. Aberrant protein glycosylation is also implicated in the development of severe cardiomyopathies in the congenital disorders of glycosylation, although the mechanisms responsible for cardiac involvement are unknown. We investigated whether patients with CMS and GFPT1 or DPAGT1 mutations also had evidence of a cardiac phenotype.