title: Frequencies of the most common mutations responsible for phenylketonuria in Poland.
abstract: We screened 91 Polish phenylketonuric (PKU) children for the presence of 18 common mutations in the phenylalanine hydroxylase (PAH) gene, and 75.7% of PAH alleles were identified. The R408W mutation accounted for 54.9% of PAH mutant alleles. In the other 20.8%, eight mutations were detected: R158Q (6.6%), IVS10 (4.9%), IVS12 (2.7%), R261Q (2.2%), G272ter (1.65%), Y414C (1.1%), R252W (1.1%) and P281L (0.54%). Correlations between genotype and clinical phenotype were described.
authors.affiliation: Department of Genetics, National Research Institute of Mother and Child, Warszawa, Poland.
authors.forename: C
authors.initials: C
authors.lastname: Zekanowski
authors.forename: M
authors.initials: M
authors.lastname: Nowacka
authors.forename: M
authors.initials: M
authors.lastname: Zgulska
authors.forename: J
authors.initials: J
authors.lastname: Horst
authors.forename: B
authors.initials: B
authors.lastname: Cabalska
authors.forename: T
authors.initials: T
authors.lastname: Mazurczak
mesh_terms: D000483:Alleles; D005787:Gene Frequency; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D009154:Mutation; D015997:Neonatal Screening; D010651:Phenylalanine Hydroxylase / Q000235:genetics*; D010661:Phenylketonurias / Q000453:epidemiology* / Q000235:genetics*; D011044:Poland / Q000453:epidemiology
chemical_list: D010651:Phenylalanine Hydroxylase