title: Molecular analysis of four cases of chronic granulomatous disease caused by defects in NCF-2: the gene encoding the p67-phox.
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.
authors.affiliation: Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: Mohsen
authors.initials: M
authors.lastname: Badalzadeh
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Fattahi
authors.forename: Mohammad Reza
authors.initials: MR
authors.lastname: Fazlollahi
authors.forename: Shaghayegh
authors.initials: S
authors.lastname: Tajik
authors.forename: Mohammad Hassan
authors.initials: MH
authors.lastname: Bemanian
authors.forename: Fatemeh
authors.initials: F
authors.lastname: Behmanesh
authors.forename: Massoud
authors.initials: M
authors.lastname: Movahedi
authors.forename: Massoud
authors.initials: M
authors.lastname: Houshmand
authors.forename: Zahra
authors.initials: Z
authors.lastname: Pourpak
mesh_terms: D002648:Child; D002675:Child, Preschool; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D020022:Genetic Predisposition to Disease; D006105:Granulomatous Disease, Chronic / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation; D019255:NADPH Oxidases / Q000172:deficiency / Q000235:genetics*; D010641:Phenotype; D010750:Phosphoproteins / Q000172:deficiency / Q000235:genetics*; D017384:Sequence Deletion
chemical_list: D018389:Codon, Nonsense; D010750:Phosphoproteins; C079789:neutrophil cytosol factor 67K; D019255:NADPH Oxidases; C527764:NCF2 protein, human