ArticleAmerican journal of human genetics1998
Lack of homozygotes for the most frequent disease allele in carbohydrate-deficient glycoprotein syndrome type 1A.
Article in American journal of human genetics, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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Who cites it
57 citing papers in PubMed, 151 citations in OpenAlex.
- Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1.Journal of inherited metabolic disease · 2000Trial
- The lack of homozygotes with a large deletion encompassingGenes & diseases · 2025Article
- A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.Orphanet journal of rare diseases · 2025Review
- Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway.Frontiers in immunology · 2025Article
- Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia.Human genetics · 2023Article
- A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report.Italian journal of pediatrics · 2022Article
- Concerted Regulation of Glycosylation Factors Sustains Tissue Identity and Function.Biomedicines · 2022Article
- Evaluation of Cell Models to Study Monocyte Functions in PMM2 Congenital Disorders of Glycosylation.Frontiers in immunology · 2022Article
- Genotype-Phenotype Correlations in PMM2-CDG.Genes · 2021Article
- A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation.Development (Cambridge, England) · 2021Article
- Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population.Molecular genetics and metabolism reports · 2021Article
- The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases.Frontiers in genetics · 2021Article
- Fatal outcome after heart surgery in PMM2-CDG due to a rare homozygous gene variant with double effects.Molecular genetics and metabolism reports · 2020Article
- Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin.Molecular genetics and metabolism reports · 2020Article
- PMM2-CDG caused by uniparental disomy: Case report and literature review.JIMD reports · 2020Article
- Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease - A Rare Case ConcerningEuropean endocrinology · 2020Article
- Clinical and whole-exome sequencing findings in two siblings from Hani ethnic minority with congenital glycosylation disorders.BMC medical genetics · 2019Article
- Repurposing the aldose reductase inhibitor and diabetic neuropathy drug epalrestat for the congenital disorder of glycosylation PMM2-CDG.Disease models & mechanisms · 2019Article
- β-Glucose-1,6-Bisphosphate Stabilizes Pathological Phophomannomutase2 Mutants In Vitro and Represents a Lead Compound to Develop Pharmacological Chaperones for the Most Common Disorder of Glycosylation, PMM2-CDG.International journal of molecular sciences · 2019Article
- Yeast Models of Phosphomannomutase 2 Deficiency, a Congenital Disorder of Glycosylation.G3 (Bethesda, Md.) · 2019Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 identified in the PMM2 gene in CDG1 patients with a PMM deficiency (CDG1A). The availability of the genomic sequences of PMM2 allowed us to screen for mutations in 56 CDG1 patients from different geographic origins. By SSCP analysis and by sequencing, we identified 23 different missense mutations and 1 single-base-pair deletion. In total, mutations were found on 99% of the disease chromosomes in CDG1A patients. The R141H substitution is present on 43 of the 112 disease alleles. However, this mutation was never observed in the homozygous state, suggesting that homozygosity for these alterations is incompatible with life. On the other hand, patients were found homozygous for the D65Y and F119L mutations, which must therefore be mild mutations. One particular genotype, R141H/D188G, which is prevalent in Belgium and the Netherlands, is associated with a severe phenotype and a high mortality. Apart from this, there is only a limited relation between the genotype and the clinical phenotype.
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