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Oligosaccharyltransferase complex‐congenital disorders of glycosylation: A novel congenital disorder of glycosylation
Author(s) -
Bryant Emily M.,
Millichap John J.,
Spinelli Egidio,
Calhoun Jeffrey D.,
Miller Christopher,
Giannelli Jessica,
Wolak Jacqueline,
Sanders Victoria,
Carvill Gemma L.,
Charrow Joel
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61553
Subject(s) - glycosylation , microcephaly , transferrin , phenotype , protein subunit , biology , gene , genetics , biochemistry
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.