Caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de Nijmegen en Chile

• Katherine Marcelain C ^[1] ; Mariana Aracena A ^[4] ; Cecilia Be R ^[2] ; Carmen Luz Navarrete S ^[5] ; Rosa Moreno H ^[6] ; Manuel Santos A ^[3] ; Juana Pincheira V ^[1]
  1. [1] Universidad de Chile

     Universidad de Chile

     Santiago, Chile

     
  2. [2] Clínica Las Condes

     Clínica Las Condes

     Santiago, Chile

     
  3. [3] Pontificia Universidad Católica de Chile

     Pontificia Universidad Católica de Chile

     Santiago, Chile

     
  4. [4] Hospital Calvo Mackena Servicio de Genética
  5. [5] Hospital Roberto del Río Unidad de Inmunorreumatología
  6. [6] Hospital Sótero del Río Servicio de Oncología

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• Localización: Revista Médica de Chile, ISSN-e 0034-9887, Vol. 132, Nº. 2, 2004, págs. 211-218
• Idioma: español
• Títulos paralelos:
  • Clinical, cytogenetic and molecular characterization of a new case of Nijmegen breakage syndrome in Chile
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• Resumen

  • 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 (Rev Méd Chile 2004; 132: 211-18)