ArticleJournal of inherited metabolic disease2006
Mutational spectrum of classical galactosaemia in Spain and Portugal.
Article in Journal of inherited metabolic disease, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Appropriateness of newborn screening for classic galactosaemia: a systematic review.Journal of inherited metabolic disease · 2016Pooled it
- Probability of high-risk genetic matching with oocyte and semen donors: complete gene analysis or genotyping test?Journal of assisted reproduction and genetics · 2022Observational
- Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular study.Annals of human genetics · 2019Article
- Clinical profile and molecular characterization of Galactosemia in Brazil: identification of seven novel mutations.BMC medical genetics · 2016Article
- A De Novo Variant in Galactose-1-P Uridylyltransferase (GALT) Leading to Classic Galactosemia.JIMD reports · 2015Article
- A frequent splicing mutation and novel missense mutations color the updated mutational spectrum of classic galactosemia in Portugal.Journal of inherited metabolic disease · 2014Article
- Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.Biochimica et biophysica acta · 2013Article
- The molecular landscape of phosphomannose mutase deficiency in iberian peninsula: identification of 15 population-specific mutations.JIMD reports · 2011Article
- Molecular and clinical analysis of patients with classic and Duarte galactosemia in western Hungary.Wiener klinische Wochenschrift · 2010Article
- Low allelic heterogeneity in a sample of Mexican patients with classical galactosaemia.Journal of inherited metabolic disease · 2008Article
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Authors and funding
9 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Classical galactosaemia is an autosomal recessive inherited metabolic disorder due to deficient galactose-1-phosphate uridyltransferase (GALT). Over 180 different base changes and disease-causing mutations have been reported in the GALT gene. Mutation p.Q188R was found to be the most common molecular defect among caucasian classical galactosaemia patients. We have characterized the spectrum of GALT mutations in a group of 51 Spanish families and 32 Portuguese families with this disease. p.Q188R is also the most prevalent mutation in the Spanish and Portuguese population, accounting for 50% and 57.8% of galactosaemic alleles, respectively. An additional 15 mutations were also identified in Spanish patients, four of which were novel: p.D28H, p.S181A, c.658dupG and c.377+53_1059+87del. In the Portuguese population, 11 different mutations were found, three of which were novel: p.R33H, p.P185S, and p.S192G. The differences observed between the genotypes identified in Portuguese and Spanish galactosaemic populations are notable. Only mutations p.Q188R, p.R148Q and c.820+13g>a were identified in both populations. In spite of the geographical proximity of Spain and Portugal, it seems that they have received genetic influences from different populations. The repeated migrations that occurred in the Iberian Peninsula throughout centuries may explain such variability.
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