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Article

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

Nature genetics - 1 May 1997

Matthijs G, Schollen E, Pardon E, Veiga-Da-Cunha M, Jaeken J, Cassiman J J, Van Schaftingen E

Abstract excerpt

Carbohydrate-deficient glycoprotein syndrome type 1 (CDG1 or Jaeken syndrome) is the prototype of a class of genetic multisystem disorders characterized by defective glycosylation of glycoconjugates. It is mostly a severe disorder which presents neonatally. There is a severe encephalopathy with axial hypotonia, abnormal eye movements and pronounced psychomotor retardation, as well as a peripheral neuropathy,...

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Source

Identifiers

PMID: 9140401
DOI: 10.1038/ng0597-88

Genes

PMM2
PMM1

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

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome).PMID 9140401Read ↗

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

Characterization of two unusual truncating PMM2 mutations in two CDG-Ia patients.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 ↗

Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous Studies.Semantic proximity Read ↗

Mutations in PMM2 that cause congenital disorders of glycosylation, type Ia (CDG-Ia).Semantic proximity Read ↗

A deletion-insertion mutation in the phosphomannomutase 2 gene in an African American patient with congenital disorders of glycosylation-Ia.Semantic proximity Read ↗

Functional analysis of novel mutations in a congenital disorder of glycosylation Ia patient with mixed Asian ancestry.Semantic proximity Read ↗

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

DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.Semantic proximity Read ↗

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

A new insight into PMM2 mutations in the French population.Semantic proximity Read ↗

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.Semantic proximity Read ↗

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