Clinical and molecular characterization of seven Egyptian families with autosomal recessive robinow syndrome: Identification of four novelROR2gene mutations

2015 ◽  
Vol 167 (12) ◽  
pp. 3054-3061 ◽  
Author(s):  
Mona Aglan ◽  
Khalda Amr ◽  
Samira Ismail ◽  
Adel Ashour ◽  
Ghada A. Otaify ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Autosomal Recessive ◽  
Robinow Syndrome

Clinical and molecular characterization of two adults with autosomal recessive Robinow syndrome

2005 ◽  
Vol 136A (2) ◽  
pp. 185-189 ◽  
Author(s):  
Fatih Tufan ◽  
Kivanc Cefle ◽  
Seval Türkmen ◽  
Aydin Türkmen ◽  
Unal Zorba ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Autosomal Recessive ◽  
Robinow Syndrome

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.

Clinical and Molecular Characterization of Autosomal Recessive Hyper IgE Syndrome in Saudi Arabia

2012 ◽  
Vol 129 (2) ◽  
pp. AB83
Author(s):  
Z. Alsum ◽  
A. Hawwari ◽  
S. Al-Hifi ◽  
E. Borrero ◽  
H. Khalak ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Molecular Characterization ◽  
Autosomal Recessive ◽  
Hyper Ige Syndrome

Clinical and molecular characterization of four patients with Robinow syndrome from different families

2021 ◽  
Author(s):  
Archana Rai ◽  
Siddaramappa J. Patil ◽  
Priyanka Srivastava ◽  
Kalpana Gaurishankar ◽  
Shubha R. Phadke
Keyword(s):  
Molecular Characterization ◽  
Robinow Syndrome

1446: Molecular Characterization of Cyclooxygenase-2 in a Stimulated Prostate Stroma Cells

2006 ◽  
Vol 175 (4S) ◽  
pp. 467-467
Author(s):  
Victor K. Lin ◽  
Shih-Ya Wang ◽  
Claus G. Roehrbom
Keyword(s):  
Molecular Characterization ◽  
Cyclooxygenase 2 ◽  
Prostate Stroma
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