Results:
PAH gene mutations were detected in 84 children diagnosed with PKU. A total of 159 mutant alleles were identified, consisting of 100 missense mutations, 28 shear mutations, 24 nonsense mutations, and 7 deletion mutations. Exon 7 had the highest mutation frequency (32.08%). Among them, the mutation frequency of p.r243q was the highest, accounting for 20.13% of all mutations, followed by p.r111x, ivs4-1g>A, ex6-96a>G, and p.r413p; these 5 loci accounted for 47.17% (75/159) of all mutations. In addition, we identified three previously unreported PAH gene mutations (p.c334x, p.g46d, and p.g256d). Fifteen mutation sites were identified in the 47 PAH carriers identified by NCS, which were verified by the newly developed kit, with an agreement rate of 100%.