Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation
Copyright policy )Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation
AbstractCongenital 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.
- Northwestern University United States
- NORTHWESTERN UNIVERSITY United States
- Lurie Children's Hospital United States
Male, Epilepsy, Transferrin, Infant, Membrane Proteins, Congenital Disorders of Glycosylation, Phenotype, Hexosyltransferases, Mutation, Exome Sequencing, Humans, Female
Male, Epilepsy, Transferrin, Infant, Membrane Proteins, Congenital Disorders of Glycosylation, Phenotype, Hexosyltransferases, Mutation, Exome Sequencing, Humans, Female
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