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Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation

Bryant, E. M.; Millichap, J. J.; Spinelli, E.; Calhoun, J. D.; Miller, C.; Giannelli, J.; Wolak, J.; Sanders, V.; Carvill, G. L.; Charrow, J.

Am J Med Genet A. 2020 Apr 9; 182(6):1460-1465


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.

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