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

A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease

2005 ◽  
Vol 35 (3) ◽  
pp. 365-369 ◽  
Author(s):  
Martin de Boer ◽  
Dominik Hartl ◽  
Uwe Wintergerst ◽  
Bernd H. Belohradsky ◽  
Dirk Roos
Keyword(s):  
Chronic Granulomatous Disease ◽  
Splice Site ◽  
Splice Site Mutation ◽  
Donor Splice Site ◽  
Granulomatous Disease ◽  
Site Mutation ◽  
Donor Splice ◽  
Intron 1

Molecular characterization of novel splice site mutation causing protein C deficiency

2016 ◽  
Vol 27 (5) ◽  
pp. 585-588 ◽  
Author(s):  
Mohamed H. Al-Hamed ◽  
Fatma AlBatniji ◽  
Ghadah A. AlDakheel ◽  
Huda El-Faraidi ◽  
Azzah Al-Zahrani ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Splice Site ◽  
Protein C ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Protein C Deficiency

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema

2014 ◽  
Vol 150 (2) ◽  
pp. 143-148 ◽  
Author(s):  
Roger Colobran ◽  
Sergio Lois ◽  
Xavier de la Cruz ◽  
Ricardo Pujol-Borrell ◽  
Manuel Hernández-González ◽  
...  
Keyword(s):  
Splice Site ◽  
Hereditary Angioedema ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Serping1 Gene ◽  
Identification And Characterization

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.

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