Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 182, Issue 6, Pages 1460-1465Publisher
WILEY
DOI: 10.1002/ajmg.a.61553
Keywords
congenital anomalies; epilepsy; infantile spasms; oligosaccharyltransferase complex; skeletal dysplasia
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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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