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

Emily M. Bryant, John J. Millichap, Egidio Spinelli, Jeffrey D. Calhoun, Christopher Miller, Jessica Giannelli, Jacqueline Wolak, Victoria Sanders, Gemma L. Carvill, Joel Charrow*

*Corresponding author for this work

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)1460-1465
Number of pages6
JournalAmerican Journal of Medical Genetics, Part A
Volume182
Issue number6
DOIs
StatePublished - Jun 1 2020

Keywords

  • congenital anomalies
  • epilepsy
  • infantile spasms
  • oligosaccharyltransferase complex
  • skeletal dysplasia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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