Identificación de mutaciones en el gen CYBB que llevan al fenotipo de la enfermedad granulomatosa crónica ligada al cromosoma X: Reporte de una nueva mutación / Report of a new mutation in CYBB gene in two patients with X linked chronic granulomatous disease
Rev. méd. Chile
;
134(8): 965-972, ago. 2006. ilus, tab
Artículo
en Español, Inglés
| LILACS
| ID: lil-438366
ABSTRACT
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 andmethods:
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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Glicoproteínas de Membrana
/
Mutación del Sistema de Lectura
/
Mutagénesis Insercional
/
NADPH Oxidasas
/
Enfermedad Granulomatosa Crónica
Tipo de estudio:
Estudio diagnóstico
/
Estudio observacional
/
Estudio pronóstico
Límite:
Niño
/
Child, preschool
/
Humanos
/
Masculino
País/Región como asunto:
America del Sur
/
Chile
Idioma:
Inglés
/
Español
Revista:
Rev. méd. Chile
Asunto de la revista:
Medicina
Año:
2006
Tipo del documento:
Artículo
/
Documento de proyecto
País de afiliación:
Brasil
/
Chile
Institución/País de afiliación:
Hospital Dr. Exequiel González Cortés/CL
/
Universidad de Chile/CL
/
Universidad de Valparaíso/CL
/
Universidade Estadual de Campinas/BR
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