The spectrum of phenylalanine hydroxylase variants and genotype-phenotype correlation in phenylketonuria patients in Gansu, China.

ABSTRACT:

Background

Phenylketonuria (PKU) is a common, congenital, autosomal recessive, metabolic disorder caused by Phenylalanine hydroxylase (PAH) variants.

Methods

967 PKU patients from Gansu, China were genotyped by Sanger sequencing, multiplex ligation-dependent probe amplification, and whole exome sequencing. We analyzed the variants of PAH exons, their flanking sequences, and introns.

Results

The detection of deep intronic variants in PAH gene can significantly improve the genetic diagnostic rate of PKU. The distribution of PAH variants among PKU subtypes may be related to the unique genetic background in Gansu, China.

Conclusion

The identification of PAH hotspot variants will aid the development of large-scale neonatal genetic screening for PKU. The five new PAH

SUBMITTER: Zhang C 

PROVIDER: S-EPMC10127316 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature