Identification and characterization of a novel deletion in the phenylalanine hydroxylase gene of a Chinese patient

Abstract Genetic analysis of 111 patients with phenylketonuria or hyperphenylalaninemia has uncovered a novel 8 bp deletion variant in the phenylalanine hydroxylase gene. The novel deletion mutation c.1034_1041del generated a protein-coding frameshift and resulted in a premature stop codon rendering severe disruption of enzymatic activity. Molecular and clinical evidence also implies that the missense mutation c.301G>A is likely to be mildly pathogenic, although it was previously reported as a benign variant.