scholarly journals Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis

2021 ◽  
Author(s):  
Huanhuan Liang ◽  
Niu Li ◽  
Ru‐en Yao ◽  
Tingting Yu ◽  
Lixia Ding ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
Autosomal Recessive ◽  
Chinese Patients ◽  
Autosomal Recessive Osteopetrosis

scholarly journals RANK‐dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations

2012 ◽  
Vol 27 (2) ◽  
pp. 342-351 ◽  
Author(s):  
Alessandra Pangrazio ◽  
Barbara Cassani ◽  
Matteo M Guerrini ◽  
Julie C Crockett ◽  
Veronica Marrella ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutations ◽  
Autosomal Recessive Osteopetrosis

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.

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