Molecular analysis of four cases of chronic granulomatous disease caused by defects in NCF-2: the gene encoding the p67-phox

Iran J Allergy Asthma Immunol. 2012 Dec;11(4):340-4.

Abstract

Chronic granulomatous disease (CGD), a rare inherited primary immunodeficiency disorder, is caused by mutation in any one of the genes encoding components of nicotinamide adenine dinucleotide phosphate (NADPH)-oxidase enzyme. NCF2 gene (encoding P67-phox component) is one of them and its mutation is less common to cause CGD (around 5-6%). Here, we assessed mutation analysis of NCF2 in 4 CGD patients with p67-phox defect in Iran. These patients showed classical CGD symptoms. NCF2 sequence analyses revealed two different homozygous mutations including a nonsense mutation in exon 4, c.304C>T (Arg 102X) in one case and a CA deletion in exon 13 (Leu346fsX380) in one brother and sister; the latter is a new mutation which has not been reported in previous studies. In another patient in whom the attempts to amplify exon 2 individually from genomic DNA were unsuccessful, PCR amplification of exon 2 revealed no band of this exon on agarose gel. A PCR amplification mix of exon 2 and exon 7, with an internal control, confirmed the lack of exon 2 in this patient. Although a gross deletion in other exons of NCF2 has been previously reported, a large deletion encompassing exon 2 has been not reported yet. This abstract was also presented in ESID 2012, Florence, Italy.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • Codon, Nonsense
  • DNA Mutational Analysis
  • Exons
  • Female
  • Genetic Predisposition to Disease
  • Granulomatous Disease, Chronic / enzymology
  • Granulomatous Disease, Chronic / genetics*
  • Granulomatous Disease, Chronic / therapy
  • Homozygote
  • Humans
  • Male
  • Mutation*
  • NADPH Oxidases / deficiency
  • NADPH Oxidases / genetics*
  • Phenotype
  • Phosphoproteins / deficiency
  • Phosphoproteins / genetics*
  • Sequence Deletion

Substances

  • Codon, Nonsense
  • Phosphoproteins
  • neutrophil cytosol factor 67K
  • NADPH Oxidases
  • NCF2 protein, human

Supplementary concepts

  • Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type II