Dilated cardiomyopathy and limb-girdle muscular dystrophy-dystroglycanopathy due to novel pathogenic variants in the DPM3 gene


Abnormalities of the N-glycosylation and O-mannosylation pathways are respectively involved in congenital disorders of glycosylation (CDG) and alpha-dystroglycanopathies [1–4]. Dolichol-P-mannose (DPM) is produced by the DPM synthase and plays an important role, as a mannosyl donor, in four different glycosylation pathways (N-glycosylation, C-mannosylation, glycosyl-phosphatidylinositol anchor assembly, and O-mannosylation) [1]. DPM synthase is composed of three subunits; DPM3 anchors the cytoplasmic catalytic subunit DPM1 to the endoplasmic reticulum membrane, and DPM2 stabilizes the complex [5–7].


Leave A Reply