Caracterización clínica, citogenÚtica y molecular de un nuevo caso de síndrome de Nijmegen en Chile / Clinical, cytogenetic and molecular characterization of a new case of Nijmegen breakage syndrome in Chile
Rev. méd. Chile
; 132(2): 211-218, feb. 2004. ilus, tab
Artigo
em Espanhol
| LILACS
| ID: lil-361498
Biblioteca responsável:
CL12.1
RESUMO
The Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder associated with microcephaly, immunodeficiency, chromosome instability and cancer proneness. The mutated gene that results in NBS codes for nibrin (Nbs1/p95), a DNA repair protein that is functionally linked to ATM, the kinase protein product of the gene responsible of ataxia-telangiectasia (A-T). We report the clinical, cytogenetic and molecular characterization of a second case of NBS in Chile detected by us. The patient is a 7 years old Chilean boy from a consanguineous marriage, with microcephaly, immunodeficiency and acute non lymphocytic leukemia (ANLL). As NBS shares chromosomal and cellular features with A-T, the cytogenetic studies of this patient also included 3 A-T patients. Our results showed that the frequency of spontaneous and X rays induced chromosomal aberrations in NBS are higher than in A-T cells. DNA analysis revealed that the patient is homozygous for the Slavic mutation 657del5 in the NBS1 gene. This finding and the absence of nibrin in patient's cells, confirmed the clinical diagnosis of NBS in our patient.
Texto completo:
Disponível
Coleções:
Bases de dados internacionais
Base de dados:
LILACS
Assunto principal:
Ataxia Telangiectasia
Limite:
Criança
/
Humanos
/
Masculino
País/Região como assunto:
América do Sul
/
Chile
Idioma:
Espanhol
Revista:
Rev. méd. Chile
Assunto da revista:
Medicina
Ano de publicação:
2004
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Clínica Las Condes/CL
/
Hospital Calvo Mackena/CL
/
Hospital Roberto del Río/CL
/
Hospital Sótero del Río/CL
/
Pontificia Universidad Católica de Chile/CL
/
Universidad de Chile/CL