Congenital disorders of glycosylation
Gene: OSTCComment on list classification: Single case reported to date, as per review by Zornitza Stark. Rating Red until further cases emerge.Created: 18 Jul 2022, 1:35 p.m. | Last Modified: 18 Jul 2022, 1:35 p.m.
Panel Version: 2.88
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.
Patient was homozygous for a canonical splice variant (c.431 + 1G > A), mRNA from patient's fibroblast showed mRNA transcript reduced 80-90%/aberrant splicing - predicting NMD.
GnomAD - 10 hets, 0 hom
Sources: LiteratureCreated: 4 Dec 2021, 7:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oligosaccharyltransferase complex-congenital disorders of glycosylation
Publications
Gene: ostc has been classified as Red List (Low Evidence).
gene: OSTC was added gene: OSTC was added to Congenital disorders of glycosylation. Sources: Literature Mode of inheritance for gene: OSTC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSTC were set to 32267060 Phenotypes for gene: OSTC were set to Oligosaccharyltransferase complex-congenital disorders of glycosylation Review for gene: OSTC was set to RED