Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Shanxi province

2021 ◽  
Vol 43 (2) ◽  
pp. 220-229
Author(s):  
Yilun Tao ◽  
Dong Han ◽  
Huiyi Shen ◽  
Xiaoze Li
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Gene Mutations ◽  
Shanxi Province ◽  
Phenotype Correlation ◽  
Hydroxylase Deficiency ◽  
Genotype Phenotype Correlation ◽  
Pah Gene

Characterization of PAH Gene Mutations and Analysis of Genotype-Phenotype Correlation in Patients with Phenylalanine Hydroxylase Deficiency from Fujian Province, Southeastern China

2021 ◽  
Author(s):  
Jinfu Zhou ◽  
Jinying Luo ◽  
Yinglin Zeng ◽  
Xiaolong Qiu ◽  
Qingying Lin ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Gene Mutations ◽  
Phenotype Correlation ◽  
Hydroxylase Deficiency ◽  
Southeastern China ◽  
Fujian Province ◽  
Quantitative Correlation ◽  
Pathogenic Variants ◽  
Different Populations ◽  
Pah Gene

Abstract Phenylalanine hydroxylase deficiency (PAHD) is the most prevalent inborn error of amino acid metabolism in China, has a complex phenotype with many variants and genotypes among different populations. Here, we analyzed the phenylalanine hydroxylase（ PAH ） gene mutations in a cohort of 93 PAHD patients from Fujian Province. And, the analysis of genotype and phenotype correlation in patients with PAHD was also determined. 44 different pathogenic variants were identified, including five novel variants. The three most prevalent mutations among all patents were p.Arg53His (18.03%), p.Arg241Cys (14.75%), and p.Arg243Gln (7.65%). The frequency of the p.Arg53His variant was the highest in patients with mild hyperphenylalaninemia (MHP), while the frequency of the p.Val399= and p.Arg111Ter variants was the highest in patients with classic phenylketonuria(cPKU). The most abundant genotypes observed in PAHD patients were p.Arg53His/p.Arg243Gln, p.Arg53His/p.IVS4-1G>A, and p.Arg53His/p.Arg241Cysp. As for the genotype-phenotype prediction, the APV/GPV system performed well in predicting the actual phenotype, as the overall consistency rate was 85.71% for PAHD patients. In conclusion, we established a PAH gene mutation spectrum in the PAHD patients in Southeastern China. A quantitative correlation analysis between genotype and phenotype severity is helpful for genetic counseling and management.

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

1999 ◽  
Vol 105 (5) ◽  
pp. 468-473 ◽  
Author(s):  
J. Mallolas ◽  
M. Antònia Vilaseca ◽  
J. Campistol ◽  
N. Lambruschini ◽  
F. José Cambra ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Phenotype Correlation ◽  
Hydroxylase Deficiency ◽  
Mutational Spectrum ◽  
Genotype Phenotype Correlation

scholarly journals IDENTIFICATION OF MUTATIONS IN THE PAH GENE IN PKU PATIENTS IN THE STATE OF MATO GROSSO

2020 ◽  
Vol 38 ◽  
Author(s):  
Roseli Divino Costa ◽  
Bianca Borsatto Galera ◽  
Bianca Costa Rezende ◽  
Amanda Cristina Venâncio ◽  
Marcial Francis Galera
Keyword(s):  
Newborn Screening ◽  
Phenylalanine Hydroxylase ◽  
Frequent Mutation ◽  
Screening Service ◽  
Phenotype Correlation ◽  
Salting Out ◽  
Cross Sectional ◽  
Mato Grosso ◽  
Genotype Phenotype Correlation ◽  
Pah Gene

ABSTRACT Objective: To identify phenylalanine hydroxylase (PAH) mutations in patients with phenylketonuria (PKU) from the Newborn Screening Service in Mato Grosso, Midwest Brazil. Methods: This is a cross-sectional descriptive study. The sample consisted of 19 PKU patients diagnosed by newborn screening. Molecular analysis: DNA extraction using the “salting-out” method. Detection of IVS10nt-11G>A, V388M, R261Q, R261X, R252W, and R408W mutations by the restriction fragment length polymorphism (RFLP) technique. Results: Two mutant alleles were identified in four patients (21.1%), one allele in five patients (26.2%), and none in the remaining ten patients (52.6%). A total of 13/38 alleles were detected, corresponding to 34.2% of the PAH alleles present. The most prevalent variant was V388M (13.2% of the alleles), followed by R261Q (10.1%) and IVS10nt-11G>A (7.9%). Three variants (R261X, R252W, and R408W) were not found. The most frequent mutation types were: missense mutation in eight alleles (18.4%) and splicing in four alleles (10.5%). The model proposed by Guldberg to determine a genotype/phenotype correlation was applied to four classical PKU patients with two identified mutations. In three of them, the predicted moderate/moderate or moderate PKU phenotype did not coincide with the actual diagnosis. The prediction coincided with the diagnosis of one classic PKU patient. The estimated incidence of PKU for Mato Grosso, Brazil, was 1:33,342 live births from 2003 to 2015. Conclusion: The only mutations found in the analyzed samples were the IVS10nt-11G>A, V388M, and R261Q. The genotype/phenotype correlation only occurred in four (5.3%) patients.

Mutational spectrum of phenylalanine hydroxylase deficiency in the population resident in Catalonia: genotype-phenotype correlation

1999 ◽  
Vol 105 (5) ◽  
pp. 468-473 ◽  
Author(s):  
J. Mallolas ◽  
M. Antònia Vilaseca ◽  
J. Campistol ◽  
N. Lambruschini ◽  
F. José Cambra ◽  
...  
Keyword(s):  
Phenylalanine Hydroxylase ◽  
Phenotype Correlation ◽  
Hydroxylase Deficiency ◽  
Mutational Spectrum ◽  
Genotype Phenotype Correlation

scholarly journals A bioinformatics framework for genotype–phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations

2006 ◽  
Vol 39 (2) ◽  
pp. 171-183 ◽  
Author(s):  
Christian Baumgartner ◽  
Gábor Mátyás ◽  
Beat Steinmann ◽  
Martin Eberle ◽  
Jörg I. Stein ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Gene Mutations ◽  
Phenotype Correlation ◽  
Fbn1 Gene ◽  
Genotype Phenotype Correlation

scholarly journals Genotype–phenotype correlation of PAX6 gene mutations in aniridia

2016 ◽  
Vol 3 (1) ◽  
Author(s):  
Tadashi Yokoi ◽  
Sachiko Nishina ◽  
Maki Fukami ◽  
Tsutomu Ogata ◽  
Katsuhiro Hosono ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Pax6 Gene ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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