[Report of a new mutation in CYBB gene in two patients with X linked chronic granulomatous disease].
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.


OBJECTIVE
To identify the mutation in the CYBB gene in two unrelated patients from Chile with the diagnosis of X-linked CGD and their families.


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.
Agudelo-Flórez
Piedad
P
Centro de Investigação em Pediatria e Departamento de Pediatria, Faculdade de Ciências Médicas, Universidade Estadual de Campinas, Brasil.
Navarro
Sara
S
Luttges
Pamela
P
López
Juan Alvaro
JA
Norambuena
Ximena
X
Navarrete S
Carmen Luz
CL
Quezada
Arnoldo
A
Spencer
Michael
M
Condino-Neto
Antonio
A
Cornejo de
Mónica
M
D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002677:Chile; D016368:Frameshift Mutation / Q000235:genetics*; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D016254:Mutagenesis, Insertional / Q000235:genetics*; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics*; D022821:RNA Splice Sites; D017422:Sequence Analysis, DNA
D008562:Membrane Glycoproteins; D022821:RNA Splice Sites; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases