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Article

DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.

American journal of human genetics - 10 Feb 2012

Jones Melanie A, Ng Bobby G, Bhide Shruti, Chin Ephrem, Rhodenizer Devin, He Ping, Losfeld Marie-Estelle, He Miao, Raymond Kimiyo, Berry Gerard, Freeze Hudson H, Hegde Madhuri R

Abstract excerpt

Congenital disorders of glycosylation (CDG) are inherited autosomal-recessive diseases that impair N-glycosylation. Approximately 20% of patients do not survive beyond the age of 5 years old as a result of widespread organ dysfunction. Although most patients receive a CDG diagnosis based on abnormal glycosylation of transferrin, this test cannot provide a genetic diagnosis; indeed, many patients with abnormal...

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Identifiers

PMID: 22305527
DOI: 10.1016/j.ajhg.2011.12.024
PMCID: PMC3276676

Genes

DDOST

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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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DDOST mutations identified by whole-exome sequencing are implicated in congenital disorders of glycosylation.PMID 22305527Read ↗

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