Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.
Ontology highlight
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.
SUBMITTER: Gao J
PROVIDER: S-EPMC9308354 | biostudies-literature |
REPOSITORIES: biostudies-literature
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