A novel mutation in the myeloperoxidase gene in a Chinese female with complete myeloperoxidase deficiency: The role of nonsense-mediated mRNA decay

作者：Wang, Kaiyu; Lin, Baoshun; Lin, Jianmin; Lan, Xiaopeng^*

来源：Gene, 2013, 515(1): 205-207.

DOI：10.1016/j.gene.2012.11.042

• Complete myeloperoxidase deficiency
• Nonsense mutation
• Nonsense-mediated mRNA decay
• Neutrophil

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 neutro-phils 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.

• 出版日期2013-2-15
• 单位中国人民解放军南京军区福州总医院; 福建医科大学