Frequencies of the most common mutations responsible for phenylketonuria in Poland

C Zekanowski; M Nowacka; M Zgulska; J Horst; B Cabalska; T Mazurczak

doi:10.1006/mcpr.1994.1044

Frequencies of the most common mutations responsible for phenylketonuria in Poland

Mol Cell Probes. 1994 Aug;8(4):323-4. doi: 10.1006/mcpr.1994.1044.

Authors

C Zekanowski¹, M Nowacka, M Zgulska, J Horst, B Cabalska, T Mazurczak

Affiliation

¹ Department of Genetics, National Research Institute of Mother and Child, Warszawa, Poland.

PMID: 7870074
DOI: 10.1006/mcpr.1994.1044

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.

MeSH terms

Alleles
Gene Frequency*
Genetic Testing
Humans
Infant, Newborn
Mutation*
Neonatal Screening
Phenylalanine Hydroxylase / genetics*
Phenylketonurias / epidemiology*
Phenylketonurias / genetics*
Poland / epidemiology

Substances

Phenylalanine Hydroxylase