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Article

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype.

European journal of human genetics : EJHG - 1 Aug 2013

Iqbal Zafar, Shahzad Mohsin, Vissers Lisenka E L M, van Scherpenzeel Monique, Gilissen Christian, Razzaq Attia, Zahoor Muhammad Yasir, Khan Shaheen N, Kleefstra Tjitske, Veltman Joris A, de Brouwer Arjan P M, Lefeber Dirk J, van Bokhoven Hans, Riazuddin Sheikh

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a large group of recessive multisystem disorders caused by impaired protein or lipid glycosylation. The CDG-I subgroup is characterized by protein N-glycosylation defects originating in the endoplasmic reticulum. The genetic defect is known for 17 different CDG-I subtypes. Patients in the few reported DPAGT1-CDG families exhibit severe intellectual disability (ID),...

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Source

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Identifiers

PMID: 23249953
DOI: 10.1038/ejhg.2012.257
PMCID: PMC3722673

Genes

DPAGT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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