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Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province
Brain and Development ( IF 1.4 ) Pub Date : 2021-02-01 , DOI: 10.1016/j.braindev.2020.08.012 Yilun Tao 1 , Dong Han 1 , Huiyi Shen 1 , Xiaoze Li 1
Brain and Development ( IF 1.4 ) Pub Date : 2021-02-01 , DOI: 10.1016/j.braindev.2020.08.012 Yilun Tao 1 , Dong Han 1 , Huiyi Shen 1 , Xiaoze Li 1
Affiliation
BACKGROUND
Phenylalanine hydroxylase deficiency (PAHD) is an autosomal recessive inborn error that affects phenylalanine (Phe) metabolism. It has a complex phenotype with many variants and genotypes among different populations. Shanxi province is a high-prevalence area of PAHD in China. METHODS
In this study, eighty-nine PAHD patients were subjected to genetic testing using Sanger sequencing, followed by multiplex ligation-dependent probe amplification analysis (MLPA). Allelic and genotypic phenotype values (APV and GPV, respectively) were used for genotype-based phenotypic prediction. RESULTS
Fifty-one types of variants, including three novel forms, were identified. The predominant variant was p.R243Q (22.09%), followed by p.R53H (10.47%), p.EX6-96A > G (9.30%), p.V399V (5.23%) and p.R413P (3.49%). Notably, mild hyperphenylalaninemia (MHP) has a high prevalence in this region (up to 45.76%), and the variant p.R53H was solely observed in patients of MHP. According to the genotype-phenotype prediction, the APV/GPV system was well correlated with the metabolic phenotype of most PAHD patients. CONCLUSION
We have systematically constructed the mutational and phenotypic spectrum of PAH in Shanxi province. Hence, this study will help to further understand the genotype-phenotype associations in PAHD patients, and it may offer more reliable genetic counseling and management.
更新日期：2021-02-01
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