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A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-
positive X-linked chronic granulomatous disease
H Azuma, H Oomi, K Sasaki, I Kawabata, T Sakaino, S Koyano, T Suzutani, H Nunoi and A Okuno
Department of Pediatrics, Asahikawa Medical School, Hokkaido, Japan.
We have previously reported a patient with cytochrome b-positive X- linked
chronic granulomatous disease. Although the O2- production of neutrophils
from the patient was completely defective, we presented data suggesting
that the patient's cytochrome b was present at a normal level and possibly
had normal spectroscopic features. Thus, to look for a mutation in the
cytochrome b heavy chain (gp91-phox) gene, DNA analysis of gp91-phox cDNA
derived from this patient was performed. As a result, we found that five
nucleotides (1521 through 1525) within exon 12 were deleted, and a new
sequence of eight nucleotides was inserted. This mutation converted
Gln507-Lys508-Thr509 into His-Ile-Trp- Ala. Mismatched polymerase chain
reaction showed that the mother has both wild and mutated alleles,
confirming that this case was transmitted in an X-linked fashion. This
mutation is different from those previously reported by others. The
translocation of p47-phox and p67-phox to the membrane fraction occurred,
indicating the complete formation of nicotinamide adenine dinucleotide
phosphate (NADPH) oxidase complex. We conclude that this case suggests that
the structure encoded on exon 12 of gp91-phox is important for electron
transfer.
Volume 85,
Issue 11,
pp. 3274-3277,
06/01/1995
Copyright © 1995 by The American Society of Hematology
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