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Revista médica de Chile

versión impresa ISSN 0034-9887


AGUDELO-FLOREZ, Piedad et al. Report of a new mutation in CYBB gene in two patients with X linked chronic granulomatous disease. Rev. méd. Chile [online]. 2006, vol.134, n.8, pp.965-972. ISSN 0034-9887.

Background: The X-linked form of chronic granulomatous disease (CGD) is a primary immunodeficiency that affects phagocytes of the innate immune system and is characterized by an increased susceptibility to severe bacterial and fungal infections. It is caused by mutations in the CYBB gene, which encodes the 91-kD subunit of phagocyte NADPH oxidase. Aim: To identify the mutation in the CYBB gene in two unrelated patients from Chile with the diagnosis of X-linked CGD and their families. Patients and methods: The molecular genetic defects of two unrelated patients from Chile with X-linked CGD caused by defects in the CYBB gene were investigated. The underlying mutation was investigated by single strand conformation polymorphism (SSCP) analysis of PCR-amplified genomic DNA and by sequencing of the affected gene region. Results: We found an insertion c.1267_1268insA in exon 10 leading to a frameshift mutation. This mutation is a novel report. We also identified a splice site mutation in the other patient, that presented a c.1326 +1 G>A substitution in intron 10. The mutation was also detectable in his heterozygous mother. Conclusions: This is the first report of the clinical and molecular characterization of Chilean patients with mutations in CYBB gene (Rev Méd Chile 2006; 134: 965-72)

Palabras clave : CYBB protein, human; Genetic diseases, X-linked; Granulomatous disease, chronic.

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