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Article

Phenotypic Heterogeneity in a Congenital Disorder of Glycosylation Caused by Mutations in STT3A.

Journal of child neurology - 1 May 2017

Ghosh Arunabha, Urquhart Jill, Daly Sarah, Ferguson Anne, Scotcher Diana, Morris Andrew A M, Clayton-Smith Jill

Abstract excerpt

STT3A encodes the catalytic subunit of the oligosaccharyltransferase complex. A congenital disorder of glycosylation caused by mutations in STT3A has only been reported in one family to date, associated with a Type I congenital disorder of glycosylation pattern of transferrin glycoforms. The authors describe a further 5 related individuals with a likely pathogenic variant in STT3A, 2 of whom also had variants in...

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Source

Identifiers

PMID: 28424003
DOI: 10.1177/0883073817696816

Genes

TUSC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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