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 language | English (US) |
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Pages (from-to) | 1460-1465 |
Number of pages | 6 |
Journal | American Journal of Medical Genetics, Part A |
Volume | 182 |
Issue number | 6 |
DOIs | |
State | Published - Jun 1 2020 |
Keywords
- congenital anomalies
- epilepsy
- infantile spasms
- oligosaccharyltransferase complex
- skeletal dysplasia
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)