A splice-supporting intronic mutation in the last bp position of a cryptic exon within intron 6 of the CYBB gene induces its incorporation into the mRNA causing chronic granulomatous disease (CGD)

Gene

Volumn 371, Issue 2, 2006, Pages 174-181

  Rump, Andreas ^a   Rösen Wolff, Angela ^a   Gahr, Manfred ^a   Seidenberg, Jürgen ^b   Roos, Christian ^c   Walter, Lutz ^c   Günther, Viola ^a   Roesler, Joachim ^a  

^a UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^b Clinic Oldenburg   (Germany)

^c GERMAN PRIMATE CENTER   (Germany)

Author keywords

Exon evolution; gp91 phox; NADPH oxidase; Pulmonary fibrosis; Reactive oxygen; Splice supporting mutation; X inactivation

Indexed keywords

MESSENGER RNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE 2;

ARTICLE; CASE REPORT; CHRONIC GRANULOMATOUS DISEASE; CONTROLLED STUDY; CYBB GENE; DISEASE COURSE; EXON; FRAMESHIFT MUTATION; GENE; GENE INDUCTION; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN TISSUE; INTERSPERSED REPEAT; INTRON; LEUKOCYTE; MALE; MAMMAL; NONHUMAN; PRESCHOOL CHILD; PRIMATE; PRIORITY JOURNAL; RNA SPLICING; STOP CODON;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA, COMPLEMENTARY; EXONS; GENE EXPRESSION PROFILING; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; INTRONS; MALE; MEMBRANE GLYCOPROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; NADPH OXIDASE; RNA SPLICING; RNA, MESSENGER; SEQUENCE HOMOLOGY, NUCLEIC ACID;

MAMMALIA; PRIMATES;

EID: 33645758306     PISSN: 03781119     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.gene.2005.11.036     Document Type: Article

References (32)

1. Anderson-Cohen M., et al. Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation. Clin. Immunol. 109 (2003) 308-317
2. Beroud C., et al. Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene. Neuromuscul. Disord. 14 (2004) 10-18
3. Chillon M., et al. A novel donor splice site in intron 11 of the CFTR gene 1811 + 1.6kbA → G, created by mutation, produces a new exon: high frequency in Spanish cystic fibrosis chromosomes and association with severe phenotype. Am. J. Hum. Genet. 56 (1995) 623-629
4. Crockard A.D., Thompson J.M., Boyd N.A., Haughton D.J., McCluskey D.R., and Turner C.P. Diagnosis and carrier detection of chronic granulomatous disease in five families by flow cytometry. Int. Arch. Allergy Immunol. 114 (1997) 144-152
5. Curnutte J.T. Chronic granulomatous disease: the solving of a clinical riddle at the molecular level. Clin. Immunol. Immunopathol. 67 (1993) S2-S15
6. de Boer M., et al. Splice site mutations are a common cause of X-linked chronic granulomatous disease. Blood 80 (1992) 1553-1558
7. Emmendorffer A., Hecht M., Lohmann-Matthes M.L., and Roesler J. A fast and easy method to determine the production of reactive oxygen intermediates by human and murine phagocytes using dihydrorhodamine 123. J. Immunol. Methods 131 (1990) 269-275
8. Emmendorffer A., Nakamura M., Rothe G., Spiekermann K., Lohmann-Matthes M.L., and Roesler J. Evaluation of flow cytometric methods for diagnosis of chronic granulomatous disease variants under routine laboratory conditions. Cytometry 18 (1994) 147-155
9. Gorlach A., et al. A p47-phox pseudogene carries the most common mutation causing p47-phox-deficient chronic granulomatous disease. J. Clin. Invest. 100 (1997) 1907-1918
10. Heyworth P.G., et al. Hematologically important mutations: X-linked chronic granulomatous disease (second update). Blood Cells Mol. Diseases 27 (2001) 16-26
11. Heyworth P.G., Cross A.R., and Curnutte J.T. Chronic granulomatous disease. Curr. Opin. Immunol. 15 (2003) 578-584
12. Hughes D.C. MIRs as agents of mammalian gene evolution. Trends Genet. 16 (2000) 60-62
13. Kobayashi S.D., et al. Gene expression profiling provides insight into the pathophysiology of chronic granulomatous disease. J. Immunol. 172 (2004) 636-643
14. Krawczak M., Reiss J., and Cooper D.N. The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum. Genet. 90 (1992) 41-54
15. Lun A., Roesler J., and Renz H. Unusual late onset of X-linked chronic granulomatous disease in an adult woman after unsuspicious childhood. Clin. Chem. 48 (2002) 780-781
16. Moskaluk C.A., Pogrebniak H.W., Pass H.I., Gallin J.I., and Travis W.D. Surgical pathology of the lung in chronic granulomatous disease. Am. J. Clin. Pathol. 102 (1994) 684-691
17. Murnane J.P., and Morales J.F. Use of a mammalian interspersed repetitive (MIR) element in the coding and processing sequences of mammalian genes. Nucleic Acids Res. 23 (1995) 2837-2839
18. Noack D., et al. Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase. Hum. Genet. 105 (1999) 460-467
19. Patino P.J., et al. 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 94 (1999) 2505-2514
20. Rae J., et al. X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. Am. J. Hum. Genet. 62 (1998) 1320-1331
21. Rae J., Noack D., Heyworth P.G., Ellis B.A., Curnutte J.T., and Cross A.R. Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). Blood 96 (2000) 1106-1112
22. Roesler J., Hecht M., Freihorst J., Lohmann-Matthes M.L., and Emmendorffer A. Diagnosis of chronic granulomatous disease and of its mode of inheritance by dihydrorhodamine 123 and flow microcytofluorometry. Eur. J. Pediatr. 150 (1991) 161-165
23. Roesler J., et al. Uncommon missense and splice mutations and resulting biochemical phenotypes in German patients with X-linked chronic granulomatous disease. Exp. Hematol. 27 (1999) 505-511
24. Roesler J., et al. Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. Blood 95 (2000) 2150-2156
25. Roesler J., et al. Benefit assessment of preventive medical check-ups in patients suffering from chronic granulomatous disease (CGD). J. Eval. Clin. Pract. 11 (2005) 513-521
26. Roos D. X-CGDbase: a database of X-CGD-causing mutations. Immunol. Today 17 (1996) 517-521
27. Rosen-Wolff A., Soldan W., Heyne K., Bickhardt J., Gahr M., and Roesler J. Increased susceptibility of a carrier of X-linked chronic granulomatous disease (CGD) to Aspergillus fumigatus infection associated with age-related skewing of lyonization. Ann. Hematol. 80 (2001) 113-115
28. Segal A.W. How neutrophils kill microbes. Annu. Rev. Immunol. 23 (2005) 197-223
29. Segal B.H., Leto T.L., Gallin J.I., Malech H.L., and Holland S.M. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore) 79 (2000) 170-200
30. Silva J.C., Shabalina S.A., Harris D.G., Spouge J.L., and Kondrashovi A.S. Conserved fragments of transposable elements in intergenic regions: evidence for widespread recruitment of MIR- and L2-derived sequences within the mouse and human genomes. Genet. Res. 82 (2003) 1-18
31. Vowells S.J., Sekhsaria S., Malech H.L., Shalit M., and Fleisher T.A. Flow cytometric analysis of the granulocyte respiratory burst: a comparison study of fluorescent probes. J. Immunol. Methods 178 (1995) 89-97
32. Winkelstein J.A., et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore) 79 (2000) 155-169