%0 Journal Article
%T Identification of phenylketonuria patient genotypes using single-gene full-length sequencing.
%A Gao J
%A Li X
%A Guo Y
%A Yu H
%A Song L
%A Fang Y
%A Yuan E
%A Shi Q
%A Zhao D
%A Yuan E
%A Zhang L
%J Hum Genomics
%V 16
%N 1
%D 07 2022 22
%M 35869558
%F 6.481
%R 10.1186/s40246-022-00397-w
%X 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.