Genetical analysis of all Danish patients diagnosed with chronic granulomatous disease
Research output: Contribution to journal › Journal article › Research › peer-review
Standard
Genetical analysis of all Danish patients diagnosed with chronic granulomatous disease. / Jakobsen, M A; Katzenstein, T L; Valerius, N H; Roos, Dirk; Fisker, N; Mogensen, T H; Jensen, Peter Østrup; Barington, T.
In: Scandinavian Journal of Immunology, Vol. 76, No. 5, 11.2012, p. 505-11.Research output: Contribution to journal › Journal article › Research › peer-review
Harvard
APA
Vancouver
Author
Bibtex
}
RIS
TY - JOUR
T1 - Genetical analysis of all Danish patients diagnosed with chronic granulomatous disease
AU - Jakobsen, M A
AU - Katzenstein, T L
AU - Valerius, N H
AU - Roos, Dirk
AU - Fisker, N
AU - Mogensen, T H
AU - Jensen, Peter Østrup
AU - Barington, T.
N1 - © 2012 The Authors. Scandinavian Journal of Immunology © 2012 Blackwell Publishing Ltd.
PY - 2012/11
Y1 - 2012/11
N2 - Chronic granulomatous disease (CGD) is a rare inherited disorder of the innate immune system caused by a defect in NADPH oxidase, leaving the granulocytes unable to kill invading microorganisms. CGD is caused by mutation in one of the five components gp91phox, p22phox, p47phox, p67phox and p40phox, encoded by the X-linked CYBB gene and the autosomal CYBA, NCF1, NCF2 and NCF4 genes respectively. We have collected samples from all Danish patients with known CGD followed in the clinic or newly diagnosed during a 5-year period, a cohort of 27 patients, and characterized them genetically. The cohort includes 10 male patients with X-linked CGD and one female with extremely lyonized expression of a defective CYBB allele. Six patients had mutation in CYBA. Seven of 10 patients with a defect in NCF1 were homozygous for the common GT deletion, one was compound heterozygous for the GT deletion and a splice-site mutation, and two patients were homozygous for a nonsense mutation in exon 7. Three novel mutations were detected, a deletion of exon 6 in CYBA, a duplication of exon 8-13 in CYBB and a splice site mutation in intron 7 of NCF1.
AB - Chronic granulomatous disease (CGD) is a rare inherited disorder of the innate immune system caused by a defect in NADPH oxidase, leaving the granulocytes unable to kill invading microorganisms. CGD is caused by mutation in one of the five components gp91phox, p22phox, p47phox, p67phox and p40phox, encoded by the X-linked CYBB gene and the autosomal CYBA, NCF1, NCF2 and NCF4 genes respectively. We have collected samples from all Danish patients with known CGD followed in the clinic or newly diagnosed during a 5-year period, a cohort of 27 patients, and characterized them genetically. The cohort includes 10 male patients with X-linked CGD and one female with extremely lyonized expression of a defective CYBB allele. Six patients had mutation in CYBA. Seven of 10 patients with a defect in NCF1 were homozygous for the common GT deletion, one was compound heterozygous for the GT deletion and a splice-site mutation, and two patients were homozygous for a nonsense mutation in exon 7. Three novel mutations were detected, a deletion of exon 6 in CYBA, a duplication of exon 8-13 in CYBB and a splice site mutation in intron 7 of NCF1.
KW - Adolescent
KW - Adult
KW - Child
KW - Child, Preschool
KW - Denmark
KW - Female
KW - Granulomatous Disease, Chronic
KW - Humans
KW - Infant
KW - Male
KW - Membrane Glycoproteins
KW - Mutation
KW - NADPH Oxidase
KW - Journal Article
U2 - 10.1111/j.1365-3083.2012.02771.x
DO - 10.1111/j.1365-3083.2012.02771.x
M3 - Journal article
C2 - 22924696
VL - 76
SP - 505
EP - 511
JO - Scandinavian Journal of Immunology, Supplement
JF - Scandinavian Journal of Immunology, Supplement
SN - 0301-6323
IS - 5
ER -
ID: 181944245