RESUMO
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.
Assuntos
Criança , Pré-Escolar , Humanos , Masculino , Mutação da Fase de Leitura/genética , Doença Granulomatosa Crônica/genética , Glicoproteínas de Membrana/genética , Mutagênese Insercional/genética , NADPH Oxidases/genética , Estudos de Casos e Controles , Chile , Doença Granulomatosa Crônica/diagnóstico , Sítios de Splice de RNA , Análise de Sequência de DNARESUMO
Se describen los resultados de una encuesta sobre enfermedades reumatológicas infantiles en pacientes de 15 años o menos de edad de los consultorios públicos y privados de reumatología pediátrica del área metropolitana de Santiago, cuyo diagnóstico hubiese quedado definido en el curso del año 1991. La población cubierta por dichos servicios fue estimada en 1.571.171 menores de 15 años. Durante 1991 hubo 2.807 consultas de reumatología infantil, de las cuales 478 (17 por ciento) correspondieron a nuevas consultas, entre las cuales se comprobaron 135 casos nuevos de enfermedades del tejido conectivo (incidencia estimada de 8.6 casos por 100.000). La artritis reumatoidea fue la afección más frecuente entre ellas (incidencia estimada 5,6 casos por 100.000)