scholarly journals Functional and genetic characterization of two extremely rare cases of Williams–Beuren Syndrome associated with chronic granulomatous disease

2013 ◽  
Vol 21 (10) ◽  
pp. 1079-1084 ◽  
Author(s):  
Marie J Stasia ◽  
Michèle Mollin ◽  
Cécile Martel ◽  
Véronique Satre ◽  
Charles Coutton ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Genetic Characterization ◽  
Granulomatous Disease

Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients

2013 ◽  
Vol 132 (5) ◽  
pp. 1156-1163.e5 ◽  
Author(s):  
Mustafa Yavuz Köker ◽  
Yıldız Camcıoğlu ◽  
Karin van Leeuwen ◽  
Sara Şebnem Kılıç ◽  
Işıl Barlan ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Genetic Characterization ◽  
Granulomatous Disease ◽  
Turkish Patients

Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease

2018 ◽  
Vol 40 (5) ◽  
pp. e268-e272 ◽  
Author(s):  
Shahram Teimourian ◽  
Faezeh Sazgara ◽  
Martin de Boer ◽  
Karin van Leeuwen ◽  
Dirk Roos ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Granulomatous Disease ◽  
Cybb Gene ◽  
New Mutations

Molecular characterization of a novel splice site mutation within theCYBB gene leading to X-linked chronic granulomatous disease

2005 ◽  
Vol 44 (4) ◽  
pp. 420-422 ◽  
Author(s):  
Cecilia N. Barese ◽  
Silvia B. Copelli ◽  
Elena De Matteo ◽  
Rub�n Zandomeni ◽  
Fabi�n Salgueiro ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Molecular Characterization ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Granulomatous Disease ◽  
Site Mutation

Molecular Characterization of Autosomal Recessive Chronic Granulomatous Disease Caused by a Defect of the Nicotinamide Adenine Dinucleotide Phosphate (Reduced Form) Oxidase Component p67-phox

Blood ◽  
1999 ◽  
Vol 94 (7) ◽  
pp. 2505-2514 ◽  
Author(s):  
Pablo J. Patiño ◽  
Julie Rae ◽  
Deborah Noack ◽  
Rich Erickson ◽  
Jiabing Ding ◽  
...  
Keyword(s):  
Nadph Oxidase ◽  
Chronic Granulomatous Disease ◽  
Molecular Characterization ◽  
Nicotinamide Adenine Dinucleotide ◽  
Autosomal Recessive ◽  
Nicotinamide Adenine Dinucleotide Phosphate ◽  
Splice Mutation ◽  
Reduced Form ◽  
Granulomatous Disease

Chronic granulomatous disease (CGD) is a rare inherited disorder of phagocytes in which defective production of microbicidal oxidants leads to severe recurrent infections. CGD is caused by mutations in any of 4 genes encoding components of nicotinamide adenine dinucleotide phosphate (reduced form; NADPH) oxidase, the multisubunit enzyme that produces the precursor of these oxidants, superoxide. Approximately 5% of CGD patients have an autosomal recessive form of disease caused by a severe deficiency of p67-phox, a 526-amino acid subunit of the oxidase that appears to regulate electron transport within the enzyme. Here we report the biochemical and molecular characterization of 6 unrelated kindreds with p67-phox deficiency. These studies show that, as in gp91-phox and p22-phox deficiencies, the p67-phox CGD patients show a high degree of heterogeneity in the genetic defects that underlie their disease. Five different mutant alleles were identified: (1) a nonsense mutation in exon 4 (C304 → T); (2) a 5-nucleotide (nt) deletion in exon 13 (nts 1169-1173); (3) a splice mutation in the first nucleotide of intron 4 (G → A); (4) a deletion of 1 nt in exon 9 (A728); and (5) a 9-nt in-frame deletion in exon 2 (nts 55-63). The splice mutation was seen in 3 unrelated kindreds, while the 5-nt deletion was seen in 2 apparently unrelated families (both of Palestinian origin). Homozygosity was present in 4 of the kindreds, 2 of which had consanguineous parentage. In the isolated neutrophils of each of the affected patients in the 6 kindreds, there was no measurable respiratory burst activity and no p67-phox protein detected by immunoblot analysis. The level of 67-phox mRNA was less than 10% of normal in the mononuclear leukocytes from 3 of the 4 patients analyzed by Northern blot studies. Thus, this heterogeneous group of mutations in p67-phox all lead to marked instability of mRNA or protein (or both) that results in the complete loss of NADPH oxidase activity.

scholarly journals Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease

2008 ◽  
Vol 141 (6) ◽  
pp. 848-851 ◽  
Author(s):  
Shahram Teimourian ◽  
Elham Zomorodian ◽  
Mohsen Badalzadeh ◽  
AliReza Pouya ◽  
Caroline Kannengiesser ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Autosomal Recessive ◽  
Granulomatous Disease ◽  
Novel Mutations

scholarly journals Characterization of Nitric Oxide Consumption Pathways by Normal, Chronic Granulomatous Disease and Myeloperoxidase-Deficient Human Neutrophils

2002 ◽  
Vol 169 (10) ◽  
pp. 5889-5896 ◽  
Author(s):  
Stephen R. Clark ◽  
Marcus J. Coffey ◽  
Rhona M. Maclean ◽  
Peter W. Collins ◽  
Malcolm J. Lewis ◽  
...  
Keyword(s):  
Nitric Oxide ◽  
Chronic Granulomatous Disease ◽  
Human Neutrophils ◽  
Granulomatous Disease
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