Author:
Gao Jinshuang,Li Xiaole,Guo Yaqing,Yu Haiyang,Song Liying,Fang Yang,Yuan Erfeng,Shi Qianqian,Zhao Dehua,Yuan Enwu,Zhang Linlin
Abstract
Abstract
Background
Phenylketonuria (PKU) is a common, autosomal recessive inborn error of metabolism caused by PAH gene variants. After routine genetic analysis methods were applied, approximately 5% of PKU patients were still not diagnosed with a definite genotype.
Methods
In this study, for the first time, we identified PKU patients with unknown genotypes via single-gene full-length sequencing.
Results
The detection rate of PKU genotype increased from 94.6 to 99.4%, an increase of approximately 5%. The variants c.1199 + 502A > T and 1065 + 241C > A were found at a high frequency in Chinese PKU patients.
Conclusion
Our study suggest that single-gene full-length sequencing is a rapid, efficient and cost-effective tool to improve the genotype detection rate of PKU patients. Moreover, we provides additional case data to support pathogenicity of deep intronic variants in PAH.
Funder
Medical Science and Technique Foundation of Henan Province
Joint Open Research Fund of Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center
Publisher
Springer Science and Business Media LLC
Subject
Drug Discovery,Genetics,Molecular Biology,Molecular Medicine
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