Dataset Information

Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.

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 | 2022 Jul

REPOSITORIES: biostudies-literature

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Publications

Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.

Gao Jinshuang J Li Xiaole X Guo Yaqing Y Yu Haiyang H Song Liying L Fang Yang Y Yuan Erfeng E Shi Qianqian Q Zhao Dehua D Yuan Enwu E Zhang Linlin L

Human genomics 20220722 1

<h4>Background</h4>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.<h4>Methods</h4>In this study, for the first time, we identified PKU patients with unknown genotypes via single-gene full-length sequencing.<h4>Results</h4>The detection rate of PKU genotype increased from 94.6 to 99.4%, an increase o ...[more]

PMID: 35869558

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Dataset Information

Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.

Background

Methods

Results

Conclusion

Publications

Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.

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