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
Article
in Es
| LILACS
| ID: lil-361498
Responsible library:
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.
Full text:
1
Collection:
01-internacional
Database:
LILACS
Main subject:
Ataxia Telangiectasia
Limits:
Child
/
Humans
/
Male
Country/Region as subject:
America do sul
/
Chile
Language:
Es
Journal:
Rev. méd. Chile
Journal subject:
MEDICINA
Year:
2004
Document type:
Article
Affiliation country:
Chile
Country of publication:
Chile