Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China.

ABSTRACT:

Background

Phenylketonuria (PKU), which primarily results from a deficiency of phenylalanine hydroxylase (PAH), is one of the most common inherited inborn errors of metabolism that impairs postnatal cognitive development. The incidence of various PAH variations differs by race and ethnicity. The aim of the present study was to characterize the PAH gene variants of a Han population from Northern China.

Methods

In total, 655 PKU patients and their families were recruited for this study; each proband was diagnosed both clinically and biochemically with phenylketonuria. Subjects were sequentially screened for single-base variants and exon deletions or duplications within PAH via direct Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA).

Results

SUBMITTER: Liu N 

PROVIDER: S-EPMC5629770 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature