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Frequencies of the most common mutations responsible for phenylketonuria in Poland
C Zekanowski1, M Nowacka, M Zgulska
1Department of Genetics, National Research Institute of Mother and Child, Warszawa, Poland.
Insights
Phenylketonuria (PKU) is a genetic disorder. Researchers identified common mutations in the phenylalanine hydroxylase (PAH) gene in Polish children with PKU, finding R408W to be the most prevalent.
Area of Science:
- Genetics
- Biochemistry
- Pediatrics
Background:
- Phenylketonuria (PKU) is an autosomal recessive metabolic disorder.
- It results from mutations in the phenylalanine hydroxylase (PAH) gene, leading to phenylalanine accumulation.
- Understanding mutation profiles is crucial for genetic counseling and treatment strategies in PKU patients.
Purpose of the Study:
- To screen Polish phenylketonuric (PKU) children for common mutations in the PAH gene.
- To determine the frequency of identified mutations.
- To explore genotype-phenotype correlations in this cohort.
Main Methods:
- Screening of 91 Polish PKU children.
- Analysis of 18 common mutations in the phenylalanine hydroxylase (PAH) gene.
- Genotyping and correlation with clinical phenotype data.
Main Results:
- Successfully identified 75.7% of PAH mutant alleles in the studied population.
- The R408W mutation was the most frequent, accounting for 54.9% of PAH mutant alleles.
- Eight other mutations were identified, including R158Q (6.6%) and IVS10 (4.9%), among others.
Conclusions:
- The study provides a comprehensive overview of common PAH gene mutations in Polish PKU children.
- R408W is the predominant mutation, highlighting its significance in this population.
- Genotype-phenotype correlations were established, aiding in clinical management.
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.