Clinical and molecular findings of chronic granulomatous disease in Oman: family studies.
Chronic granulomatous disease (CGD), a rare inherited disorder of the innate immune system, results from mutations in any one of the five genes encoding the subunits of the nicotinamide adenine dinucleotide phosphate-oxidase (NADPH) oxidase enzyme, and is characterized by recurrent life-threatening bacterial and fungal infections. Molecular analysis of 14 Omani CGD patients from 10 families, diagnosed to have CGD on clinical (recurrent infections) and biochemical grounds (positive for both the nitroblue tetrazolium (NBT) test and the dihydrorhodamine (DHR-1,2,3 assay), revealed that only one patient had X-linked CGD, with a large deletion involving both the gp91-phox gene (CYBB) and the McLeod gene (XK). The remaining 13 patients were all homozygotes from a previously described c.579G>A (p.Trp193X) mutation in the NCF1 gene on chromosome 7, responsible for autosomal recessive CGD (AR-CGD). Although X-linked CGD is the most common type of CGD disorder in most population groups, AR-CGD is the most prevalent type in Oman.
Department of Hematology.
S
S
Al-Zadjali
S
S
Al-Tamemi
I
I
Elnour
S
S
AlKindi
C
C
Lapoumeroulie
S
S
Al-Maamari
A
A
Pathare
D
D
Dennison
R
R
Krishnamoorthy
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007113:Immunity, Innate / Q000235:genetics; D007223:Infant; D008297:Male; D009154:Mutation; D019255:NADPH Oxidases / Q000235:genetics*; D009850:Oman; D010375:Pedigree
D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1
NCF1; Oman; autosomal recessive; chronic granulomatous disease; p.Trp193X