Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation. Issue 6 (8th April 2020)

• Record Type: Journal Article
• Authors: Bryant, Emily M.; Millichap, John J.; Spinelli, Egidio; Calhoun, Jeffrey D.; Miller, Christopher; Giannelli, Jessica; Wolak, Jacqueline; Sanders, Victoria; Carvill, Gemma L.; Charrow, Joel
• Is Part Of: American journal of medical genetics. Volume 182:Issue 6(2020)
• Page Start: 1460
• Page End: 1465
• Publication Date: 2020-04-08
• Subjects: congenital anomalies -- epilepsy -- infantile spasms -- oligosaccharyltransferase complex -- skeletal dysplasia; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.61553
• Languages: English
• ISSNs: 1552-4825

Abstract

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.