Premium
A 40‐base‐pair duplication in the gp91‐ phox gene leading to X‐linked chronic granulomatous disease
Author(s) -
Rabbani Hodjattallah,
Boer Martin,
Åhlin Anders,
Sundin Ulf,
Elinder Göran,
Hammarström Lennart,
Palmblad Jan,
Smith C. I. Edvard,
Roos Dirk
Publication year - 1993
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1993.tb00634.x
Subject(s) - chronic granulomatous disease , frameshift mutation , gene duplication , exon , superoxide , gene , nadph oxidase , genetics , mutation , biology , oxidase test , immunology , biochemistry , enzyme , reactive oxygen species
Chronic granulomatous disease (CGD) is characterized by the inability of the patients' phagocytic leukocytes to generate superoxide. Therefore, these cells fail to kill certain bacteria and fungi. As a result, patients with CGD suffer from recurrent, life‐threatening infections with these micro‐organisms. Superoxide is produced by NADPH oxidase, a multicomponent enzyme exclusively present in phagocytic leukocytes. The most common form of CGD is X‐linked, originating from a deficiency of the high‐molecular‐weight subunit of cytochrome b 558 (gp91‐ phox ). Here we describe a patient suffering from X‐linked CGD due to a 40‐base‐pair duplication in exon 7 of the CYBB gene coding for gp91‐ phox , predicting a frameshift, substitution of 22 amino acids and a premature stop codon at amino‐acid position 253. The mother as well as the grandmother of this patient were proven to be heterozygous for this mutation; the father and sister were normal. However, the great‐grandmother proved to have normal oxidative functions, suggesting that the mutation occurred three generations ago. This is the first description of a nucleotide duplication leading to CGD.