Frequencies of the most common mutations responsible for phenylketonuria in Poland.
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.
Zekanowski
C
C
Department of Genetics, National Research Institute of Mother and Child, Warszawa, Poland.
Nowacka
M
M
Zgulska
M
M
Horst
J
J
Cabalska
B
B
Mazurczak
T
T
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
D010651:Phenylalanine Hydroxylase