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Published on: December 4, 2018
Detection of non-DeltaGT NCF-1 mutations in chronic granulomatous disease
Marianne Antonius Jakobsen1, Svend Stenvang Pedersen, Torben Barington
1Department of Clinical Immunology, Odense University Hospital, Odense C, Denmark. maj@dadlnet.dk
Aims:
Chronic granulomatous disease (CGD) is a rare inherited disorder caused by mutations in the subunits of the NADPH oxidase complex, leaving phagocytes unable to produce superoxide and thereby unable to kill invading microorganisms. A subgroup of CGD patients (approximately 20%) is reported to have mutations in NCF-1 encoding p47-phox, which is part of the cytosolic component of NADPH oxidase. More than 94% of these patients share the same mutation, a 2 bp GT deletion in the GTGT dinucleotide repeat in the start of exon 2. The presence of two pseudogenes more than 98% homologous to the functional NCF-1 has complicated the identification of other mutations in the gene. The aim of this study was to find a general technique for detection of non-GT deletion mutations in the coding region of NCF-1.
Results:
A technique involving GeneScan analysis followed by amplification of cDNA with intact dinucleotide repeat was set up and used to identify a novel mutation in exon 7 of NCF-1 in a patient with autosomal recessive CGD, explaining the disease by changing a UGG codon to a premature UGA STOP codon.
Conclusion:
The method is generally applicable for the detection of NCF-1 mutations in patients with suspected CGD.
