{Reference Type}: Journal Article
{Title}: Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.
{Author}: Gao J;Li X;Guo Y;Yu H;Song L;Fang Y;Yuan E;Shi Q;Zhao D;Yuan E;Zhang L;
{Journal}: Hum Genomics
{Volume}: 16
{Issue}: 1
{Year}: 07 2022 22
{Factor}: 6.481
{DOI}: 10.1186/s40246-022-00397-w
{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.<BR>In this study, for the first time, we identified PKU patients with unknown genotypes via single-gene full-length sequencing.<BR>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.<BR>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.