Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation
Emily Bryant, J Gordon Millichap, Egidio Spinelli, Jeffrey D. Calhoun, Christopher Miller, Jessica Giannelli, Jacqueline Wolak, Victoria R. Sanders, Gemma L. Carvill, Joel Charrow
Abstract
Congenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all organs, CDG show a wide spectrum of phenotypes. We present a patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused by a homozygous variant in the oligosaccharyltransferase complex noncatalytic subunit (OSTC) gene involved in glycosylation and confirmed by serum transferrin electrophoresis.