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Article

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG.

Biomolecules - 12 Mar 2026

Al-Shahrani Hamdan, Szabó Evelin, Staccone Caroline, MacDonald Georgia, Furuta Yutaka, Schecter Daniel, Edmondson Andrew C, McRae Anne, Baker Josh, Morava Eva, Tinker Rory J

Abstract excerpt

STT3A encodes the catalytic subunit of the oligosaccharyltransferase A (OST-A) complex and is classically linked to severe autosomal-recessive congenital disorder of glycosylation (CDG). To define the distinct autosomal-dominant disorder, we reviewed all published cases and integrated three previously unpublished individuals from the CDG natural history study. Across 21 individuals, abnormal transferrin...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 41897354
DOI: 10.3390/biom16030418
PMCID: PMC13024167

Genes

STT3A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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