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%.