Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark

A. Bayat, S. Yasmeen, A. Lund, J.B. Nielsen, Lisbeth Birk Møller

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

    Abstract

    We describe the genotypes of the complete cohort, from 1967 to 2014, of phenylketonuria (PKU) patients in Denmark, in total 376 patients. A total of 752 independent alleles were investigated. Mutations were identified on 744 PKU alleles (98.9%). In total, 82 different mutations were present in the cohort. The most frequent mutation c.1315+1G>A (IVS12+1G>A) was found on 25.80% of the 744 alleles. Other very frequent mutations were c.1222C>T (p.R408W) (16.93%) and c.1241A>G (p.Y414C) (11.15%). Among the identified mutations, five mutations; c.532G>A (p.E178K), c.730C>T (p.P244S), c.925G>A (p.A309T), c.1228T>A (p.F410I), and c.1199+4A>G (IVS11+4A>G) have not been reported previously. The metabolic phenotypes of PKU are classified into four categories; classical PKU', moderate PKU', mild PKU' and mild hyperphenylalaninemia'. In this study, we assigned the phenotypic outcome of three of the five novel mutations and furthermore six not previously classified mutations to one of the four PKU categories.
    OriginalsprogEngelsk
    TidsskriftClinical Genetics
    Vol/bind90
    Udgave nummer3
    Sider (fra-til)247-251
    ISSN0009-9163
    DOI
    StatusUdgivet - 2016

    Emneord

    • classification
    • genotype-phenotype
    • PAH
    • PKU

    Citer dette

    Bayat, A., Yasmeen, S., Lund, A., Nielsen, J. B., & Møller, L. B. (2016). Mutational and phenotypical spectrum of phenylalanine hydroxylase deficiency in Denmark. Clinical Genetics, 90(3), 247-251. https://doi.org/10.1111/cge.12692