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Phenylketonuria in Portugal: Genotype–Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analyses

2021Journal article Open access
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dc.contributor.authorFerreira, F
dc.contributor.authorAzevedo, L
dc.contributor.authorNeiva, R
dc.contributor.authorSousa, C
dc.contributor.authorFonseca, H
dc.contributor.authorMarcão, A
dc.contributor.authorRocha, H
dc.contributor.authorCarmona, C
dc.contributor.authorRamos, S
dc.contributor.authorBandeira, A
dc.contributor.authorMartins, E
dc.contributor.authorCampos, T
dc.contributor.authorRodrigues, E
dc.contributor.authorGarcia, P
dc.contributor.authorDiogo, L
dc.contributor.authorFerreira, AC
dc.contributor.authorSequeira, S
dc.contributor.authorSilva, F
dc.contributor.authorRodrigues, L
dc.contributor.authorGaspar, A
dc.contributor.authorJaneiro, P
dc.contributor.authorAmorim, A
dc.contributor.authorVilarinho, L
dc.date.accessioned2022-05-09T14:45:42Z
dc.date.available2022-05-09T14:45:42Z
dc.date.issued2021
dc.description.abstractBackground: The impairment of the hepatic enzyme phenylalanine hydroxylase (PAH) causes elevation of phenylalanine levels in blood and other body fluids resulting in the most common inborn error of amino acid metabolism (phenylketonuria). Persistently high levels of phenylalanine lead to irreversible damage to the nervous system. Therefore, early diagnosis of the affected individuals is important, as it can prevent clinical manifestations of the disease. Methods: In this report, the biochemical and genetic findings performed in 223 patients diagnosed through the Portuguese Neonatal Screening Program (PNSP) are presented. Results: Overall, the results show that a high overlap exists between different types of variants and phenylalanine levels. Molecular analyses reveal a wide mutational spectrum in our population with a total of 56 previously reported variants, most of them found in compound heterozygosity (74% of the patients). Intragenic polymorphic markers were used to assess the haplotypic structure of mutated chromosomes for the most frequent variants found in homozygosity in our population (p.Ile65Thr, p.Arg158Gln, p.Leu249Phe, p.Arg261Gln, p.Val388Met, and c.1066-11G>A). Conclusion: Our data reveal high heterogeneity at the biochemical and molecular levels and are expected to provide a better understanding of the molecular basis of this disease and to provide clues to elucidate genotype-phenotype correlations.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationMol Genet Genomic Med . 2021 Mar;9(3):e1559pt_PT
dc.identifier.doi10.1002/mgg3.1559pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/4072
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWileypt_PT
dc.subjectPortuguese populationpt_PT
dc.subjectBiochemical and genetic findingspt_PT
dc.subjectHaplotypic studypt_PT
dc.subjectMutation spectrumpt_PT
dc.subjectPhenylketonuriapt_PT
dc.subjectHDE MTBpt_PT
dc.titlePhenylketonuria in Portugal: Genotype–Phenotype Correlations Using Molecular, Biochemical, and Haplotypic Analysespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue3pt_PT
oaire.citation.startPagee1559pt_PT
oaire.citation.titleMolecular Genetics & Genomic Medicinept_PT
oaire.citation.volume9pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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