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[Genetic analysis of 36 children affected with phenylalanine hydroxylase deficiency from Fujian]
Wenbin Zhu1, Hanqiang Chen, Yueqing Su
1Fujian Provincial Maternity and Child Health Care Hospital, Fujian Neonatal Screening Center, Fuzhou, Fujian 350001, P. R. China. hqchen_996@qq.com.
Insights
Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH) gene mutations. This study identified common PAH mutations in the Fujian population, finding R241C, R408Q, and Ex6-96A>G to be most prevalent.
Area of Science:
- Genetics
- Biochemistry
- Medical Genetics
Background:
- Phenylketonuria (PKU) is an autosomal recessive metabolic disorder.
- It results from mutations in the phenylalanine hydroxylase (PAH) gene, leading to impaired phenylalanine metabolism.
- Understanding regional mutation spectra is crucial for genetic counseling and diagnosis.
Purpose of the Study:
- To characterize the specific spectrum of phenylalanine hydroxylase (PAH) gene mutations in patients with PAH deficiency in the Fujian population.
- To identify the most common PAH mutations within this demographic.
- To report novel mutations if discovered.
Main Methods:
- Collection of peripheral blood samples from 36 patients with classical PKU and their parents.
- Extraction of genomic DNA from collected samples.
- Polymerase Chain Reaction (PCR) amplification followed by DNA sequencing to identify PAH gene mutations.
Main Results:
- Twenty distinct PAH gene mutations were identified across 72 mutant alleles.
- The most frequent mutations were R241C (15.9%), R408Q (12.7%), and Ex6-96A>G (11.1%).
- A novel mutation, c.189_190dupTGAC, was identified; R241C was linked to 28% of mild hyperphenylalaninemia cases, and R408Q to 25% of classical PKU cases.
Conclusions:
- A distinct spectrum of PAH gene mutations exists in the Fujian region.
- R241C, R408Q, and Ex6-96A>G are the predominant PAH mutations in this population.
- These findings contribute to the understanding of PKU genetics in China.
Objective:
To study the characteristics of phenylalanine hydroxylase gene (PAH) mutations in patients with PAH deficiency in Fujian population.
Methods:
Peripheral blood samples of 36 patients and their parents with classical type phenylketouria (PKU) were collected. Genomic DNA was extracted. Following PCR amplification, DNA sequencing was carried out to identify the origins of mutations.
Results:
Twenty types mutations were identified in 63 of the 72 alleles. The most common mutations were R241C, R408Q and Ex6-96A>G, which respectively accounted for 15.9%, 12.7% and 11.1% of all mutant alleles. The c.189_190dupTGAC mutation was first reported. R241C was associated with 28% of mild hyperphenylalaninemia and R408Q is associated with 25% of classical PKU.
Conclusion:
There is a specific spectrum of PAH gene mutation in Fujian region. R241C, R408Q and Ex6-96A>G are the most common mutations.
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