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Article

DDOST-Congenital Disorder of Glycosylation: Defining the Clinical Spectrum and First Report of a Structural Variant.

American journal of medical genetics. Part A - 1 May 2026

Reynolds Giuseppe, Carelli Ilaria, Rondot Federico, Massuras Stefania, Pagliardini Veronica, Gragnaniello Vincenza, Burlina Alberto B, Resciniti Sara, Agata Simona, Colavito Davide, Mussa Alessandro

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a heterogeneous group of metabolic diseases caused by defects in glycan biosynthesis, predominantly affecting the N-glycosylation pathway. Pathogenic variants in the DDOST gene, encoding a non-catalytic subunit of the oligosaccharyltransferase (OST) complex, underlie an ultra-rare CDG subtype with only three patients reported to date, complicating diagnosis and...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41392699
DOI: 10.1002/ajmga.70026

Genes

DDOST
FMR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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