Molecular Analysis of Four Cases of Chronic Granulomatous Disease Caused by Defects in NCF-2: The Gene Encoding the p67-phox


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 (Arg102X) 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.

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IssueVol 11, No 4 (2012) QRcode
Chronic Granulomatous Disease P67-phox NADPH oxidase NCF2

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Badalzadeh M, Fattahi F, Fazlollahi MR, Tajik S, Bemanian MH, Behmanesh F, Movahedi M, Houshmand M, Pourpak Z. 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. 1;11(4):340-344.