ArticleJournal of inherited metabolic disease2002
Biochemical and molecular studies in 26 Spanish patients with congenital disorder of glycosylation type Ia.
Article in Journal of inherited metabolic disease, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- A comprehensive update of genotype-phenotype correlations in PMM2-CDG: insights from molecular and structural analyses.Orphanet journal of rare diseases · 2025Review
- Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.Molecular genetics and metabolism reports · 2021Article
- Crosstalk among Calcium ATPases: PMCA, SERCA and SPCA in Mental Diseases.International journal of molecular sciences · 2021Review
- Article
- The Analysis of Variants in the General Population Reveals ThatInternational journal of molecular sciences · 2018Article
- Recognizable phenotypes in CDG.Journal of inherited metabolic disease · 2018Review
- Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.American journal of human genetics · 2016Article
- Conformational response to ligand binding in phosphomannomutase2: insights into inborn glycosylation disorder.The Journal of biological chemistry · 2014Article
- Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).Cerebellum (London, England) · 2012Article
- Phosphomannose isomerase inhibitors improve N-glycosylation in selected phosphomannomutase-deficient fibroblasts.The Journal of biological chemistry · 2011Article
- Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutations.Journal of inherited metabolic disease · 2011Article
- The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.JIMD reports · 2011Article
- Congenital disorder of glycosylation type Ia: heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency.Journal of inherited metabolic disease · 2009Article
- Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients.Biochimica et biophysica acta · 2009Review
- Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.Journal of medical genetics · 2007Article
- Mutational spectrum of classical galactosaemia in Spain and Portugal.Journal of inherited metabolic disease · 2006Article
- Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema.European journal of pediatrics · 2005Article
- Identification and functional analysis of a defect in the human ALG9 gene: definition of congenital disorder of glycosylation type IL.American journal of human genetics · 2004Article
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13 authors.
Funding
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Abstract
We present our experience with the diagnosis of 26 patients (19 families) with congenital disorders of glycosylation classified as type Ia due to PMM deficiency. In all but one of these CDG Ia families the patients are compound heterozygous for mutations in PMM2. Eighteen different mutations were detected. In contrast to other series in which R141H represents 43-50% of the alleles, only 9/36 (25%) alleles have this mutation. Two mutations (R123Q and T237M) have been found on three disease chromosomes, four (V44A, Y64C, P113L and F207S) on two disease chromosomes and 12 mutations (D65Y, Y76C, IVS3+2C>T, E93A, R123X, V129M, I153T, F157S, E197A, N216I, T226S, C241S) only on one disease chromosome. V44A and D65Y probably originated in the Iberian peninsula, as they have only been reported in Portuguese and Latin-American patients; Y64C, Y76C, R123X and F207S have not been detected in other patients. R123X is the only stop codon mutation so far described in PMM2. The common European F119L mutation has not been found in our patients, although it is very frequent in other populations (43% allele frequency in Danish patients). Probably because of this genetic heterogeneity, Spanish patients show very diverse phenotypes that are, in general, milder than in other series. This points to the necessity of widening the criteria for CDG in the routine screening for inborn metabolic diseases.
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