title: A novel mutation in the myeloperoxidase gene in a Chinese female with complete myeloperoxidase deficiency: the role of nonsense-mediated mRNA decay.
abstract: Myeloperoxidase (MPO) is an important enzyme in innate immunity. Here, we describe the first identified Chinese individual with complete MPO deficiency. The proband was ascertained through routine automated complete blood analysis. Analysis of MPO function and immunogenicity revealed that MPO levels in neutrophils were significantly decreased. Mutational analysis revealed a novel premature termination codon p.(Trp602*) in exon 11 of the MPO gene, which was inherited in an autosomal recessive manner. We demonstrated that nonsense-mediated mRNA decay is involved in the molecular pathology of MPO deficiency in this case. The study of MPO deficiency can be helpful in understanding the function and biosynthesis mechanisms of MPO.
authors.affiliation: Institute of Laboratory Medicine, Fuzhou General Hospital, No. 156 North Xi'er Huan Road, Fuzhou, 350025, China.
authors.forename: Kaiyu
authors.initials: K
authors.lastname: Wang
authors.forename: Baoshun
authors.initials: B
authors.lastname: Lin
authors.forename: Jianmin
authors.initials: J
authors.lastname: Lin
authors.forename: Xiaopeng
authors.initials: X
authors.lastname: Lan
mesh_terms: D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D059365:Nonsense Mediated mRNA Decay; D010375:Pedigree; D009195:Peroxidase / Q000172:deficiency* / Q000235:genetics*
chemical_list: D009195:Peroxidase