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

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 kina...

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Autores principales:	Marcelain C,Katherine, Aracena A,Mariana, Be R,Cecilia, Navarrete S,Carmen Luz, Moreno H,Rosa, Santos A,Manuel, Pincheira V,Juana
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2004
Materias:	Ataxia telangiectasia Genes Nijmejen-Breakage syndrome
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000200011
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spelling	oai:scielo:S0034-988720040002000112005-11-23Caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de Nijmegen en ChileMarcelain C,KatherineAracena A,MarianaBe R,CeciliaNavarrete S,Carmen LuzMoreno H,RosaSantos A,ManuelPincheira V,Juana Ataxia telangiectasia Genes Nijmejen-Breakage syndrome 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)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.132 n.2 20042004-02-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000200011es10.4067/S0034-98872004000200011
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Ataxia telangiectasia Genes Nijmejen-Breakage syndrome
spellingShingle	Ataxia telangiectasia Genes Nijmejen-Breakage syndrome Marcelain C,Katherine Aracena A,Mariana Be R,Cecilia Navarrete S,Carmen Luz Moreno H,Rosa Santos A,Manuel Pincheira V,Juana Caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de Nijmegen en Chile
description	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)
author	Marcelain C,Katherine Aracena A,Mariana Be R,Cecilia Navarrete S,Carmen Luz Moreno H,Rosa Santos A,Manuel Pincheira V,Juana
author_facet	Marcelain C,Katherine Aracena A,Mariana Be R,Cecilia Navarrete S,Carmen Luz Moreno H,Rosa Santos A,Manuel Pincheira V,Juana
author_sort	Marcelain C,Katherine
title	Caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de Nijmegen en Chile
title_short	Caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de Nijmegen en Chile
title_full	Caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de Nijmegen en Chile
title_fullStr	Caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de Nijmegen en Chile
title_full_unstemmed	Caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de Nijmegen en Chile
title_sort	caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de nijmegen en chile
publisher	Sociedad Médica de Santiago
publishDate	2004
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000200011
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Caracterización clínica, citogenética y molecular de un nuevo caso de síndrome de Nijmegen en Chile

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