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Article

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.

American journal of human genetics - 1 Mar 1998

Matthijs G, Schollen E, Van Schaftingen E, Cassiman J J, Jaeken J

Abstract excerpt

Carbohydrate-deficient-glycoprotein syndrome type 1 (CDG1; also known as "Jaeken syndrome") is an autosomal recessive disorder characterized by defective glycosylation. Most patients show a deficiency of phosphomannomutase (PMM), the enzyme that converts mannose 6-phosphate to mannose 1-phosphate in the synthesis of GDP-mannose. The disease is linked to chromosome 16p13, and mutations have recently been...

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Source

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Identifiers

PMID: 9497260
DOI: 10.1086/301763
PMCID: PMC1376957

Genes

PMM2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.PMID 9497260Read ↗

Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1.Semantic proximity Read ↗

Lack of Hardy-Weinberg equilibrium for the most prevalent PMM2 mutation in CDG-Ia (congenital disorders of glycosylation type Ia).Semantic proximity Read ↗

PMM2 mutation spectrum, including 10 novel mutations, in a large CDG type 1A family material with a focus on Scandinavian families.Semantic proximity Read ↗

Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.Semantic proximity Read ↗

Scandinavian CDG-Ia patients: genotype/phenotype correlation and geographic origin of founder mutations.Semantic proximity Read ↗

A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.Semantic proximity Read ↗

A Case of PMM2-CDG Caused by an A108V Mutation Associated With a Heterozygous 70 Kilobases DeletionSemantic proximity Read ↗

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).Semantic proximity Read ↗

Congenital disorder of glycosylation type Ia: searching for the origin of common mutations in PMM2.Semantic proximity Read ↗

The Analysis of Variants in the General Population Reveals That PMM2 Is Extremely Tolerant to Missense Mutations and That Diagnosis of PMM2-CDG Can Benefit from the Identification of Modifiers.Semantic proximity Read ↗

Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene.Semantic proximity Read ↗

Denaturing high-performance liquid chromatography is a suitable method for PMM2 mutation screening in carbohydrate-deficient glycoprotein syndrome type IA patients.Semantic proximity Read ↗

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