Abstract：
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.
In this study, for the first time, we identified PKU patients with unknown genotypes via single-gene full-length sequencing.
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.
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.
In this study, for the first time, we identified PKU patients with unknown genotypes via single-gene full-length sequencing.
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.
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.
摘要：
苯丙酮尿症（PKU）是一种常见的，常染色体隐性遗传先天性代谢错误引起的PAH基因变异。应用常规遗传分析方法后，约5%的PKU患者仍未被诊断为明确的基因型.
在这项研究中,第一次,我们通过单基因全长测序鉴定了基因型未知的PKU患者.
PKU基因型检出率从94.6％提高到99.4％，增加约5%。在中国PKU患者中发现了高频率的变体c.1199502A>T和1065241C>A。
我们的研究表明，单基因全长测序是一种快速，提高PKU患者基因型检出率的方法。此外，我们提供了额外的病例数据来支持深内含子变异在PAH中的致病性.
在这项研究中,第一次,我们通过单基因全长测序鉴定了基因型未知的PKU患者.
PKU基因型检出率从94.6％提高到99.4％，增加约5%。在中国PKU患者中发现了高频率的变体c.1199502A>T和1065241C>A。
我们的研究表明，单基因全长测序是一种快速，提高PKU患者基因型检出率的方法。此外，我们提供了额外的病例数据来支持深内含子变异在PAH中的致病性.
