A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG

Autores
Delgado, M. A.; Martinez Domenech, G.; Sarrión, P.; Urreizti, R.; Zecchini, L.; Robledo, H. H.; Segura, F.; Dodelson de Kremer, Raquel; Balcells, S.; Grinberg, D.; Asteggiano, Carla Gabriela
Año de publicación
2014
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition. EXT1 and EXT2, are tumor suppressor genes that encode glycosyltransferases involved in heparan sulfate elongation. We present the clinical and molecular analysis of 33 unrelated Latin American patients (27 MO and 6 SO). Sixty-three percent of all MO cases presented severe phenotype and two malignant transformations to chondrosarcoma (7%). We found the mutant allele in 78% of MO patients. Ten mutations were novel. The disease-causing mutations remained unknown in 22% of the MO patients and in all SO patients. No second mutational hit was detected in the DNA of the secondary chondrosarcoma from a patient who carried a nonsense EXT1 mutation. Neither EXT1 nor EXT2 protein could be detected in this sample. This is the first Latin American research program on EXT1/EXT2-CDG.
Fil: Delgado, M. A.. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina
Fil: Martinez Domenech, G.. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina
Fil: Sarrión, P.. Universidad de Barcelona; España
Fil: Urreizti, R.. Universidad de Barcelona; España
Fil: Zecchini, L.. Hospital de Niños de la Santísima Trinidad; Argentina
Fil: Robledo, H. H.. Hospital de Niños de la Santísima Trinidad; Argentina
Fil: Segura, F.. Universidad Nacional de Córdoba; Argentina
Fil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina
Fil: Balcells, S.. Universidad de Barcelona; España
Fil: Grinberg, D.. Universidad de Barcelona; España
Fil: Asteggiano, Carla Gabriela. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Est.de Las Metabolopatias Congenitas. Cátedra de Clinica Pediatrica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
Materia
EXT1/EXT2-CDG
O-glycosylation
osteochondroma
osteochondrosarcoma
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/199954
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/199954
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDGDelgado, M. A.Martinez Domenech, G.Sarrión, P.Urreizti, R.Zecchini, L.Robledo, H. H.Segura, F.Dodelson de Kremer, RaquelBalcells, S.Grinberg, D.Asteggiano, Carla GabrielaEXT1/EXT2-CDGO-glycosylationosteochondromaosteochondrosarcomahttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition. EXT1 and EXT2, are tumor suppressor genes that encode glycosyltransferases involved in heparan sulfate elongation. We present the clinical and molecular analysis of 33 unrelated Latin American patients (27 MO and 6 SO). Sixty-three percent of all MO cases presented severe phenotype and two malignant transformations to chondrosarcoma (7%). We found the mutant allele in 78% of MO patients. Ten mutations were novel. The disease-causing mutations remained unknown in 22% of the MO patients and in all SO patients. No second mutational hit was detected in the DNA of the secondary chondrosarcoma from a patient who carried a nonsense EXT1 mutation. Neither EXT1 nor EXT2 protein could be detected in this sample. This is the first Latin American research program on EXT1/EXT2-CDG.Fil: Delgado, M. A.. Universidad Nacional de Córdoba. Facultad de Medicina; ArgentinaFil: Martinez Domenech, G.. Universidad Nacional de Córdoba. Facultad de Medicina; ArgentinaFil: Sarrión, P.. Universidad de Barcelona; EspañaFil: Urreizti, R.. Universidad de Barcelona; EspañaFil: Zecchini, L.. Hospital de Niños de la Santísima Trinidad; ArgentinaFil: Robledo, H. H.. Hospital de Niños de la Santísima Trinidad; ArgentinaFil: Segura, F.. Universidad Nacional de Córdoba; ArgentinaFil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Medicina; ArgentinaFil: Balcells, S.. Universidad de Barcelona; EspañaFil: Grinberg, D.. Universidad de Barcelona; EspañaFil: Asteggiano, Carla Gabriela. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Est.de Las Metabolopatias Congenitas. Cátedra de Clinica Pediatrica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; ArgentinaNature Publishing Group2014-07info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/199954Delgado, M. A.; Martinez Domenech, G.; Sarrión, P.; Urreizti, R.; Zecchini, L.; et al.; A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG; Nature Publishing Group; Scientific Reports; 4; 7-2014; 1-72045-2322CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.nature.com/articles/srep06407info:eu-repo/semantics/altIdentifier/doi/10.1038/srep06407info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-10-22T12:04:56Zoai:ri.conicet.gov.ar:11336/199954instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-10-22 12:04:56.896CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG
title A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG
spellingShingle A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG
Delgado, M. A.
EXT1/EXT2-CDG
O-glycosylation
osteochondroma
osteochondrosarcoma
title_short A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG
title_full A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG
title_fullStr A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG
title_full_unstemmed A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG
title_sort A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG
dc.creator.none.fl_str_mv Delgado, M. A.
Martinez Domenech, G.
Sarrión, P.
Urreizti, R.
Zecchini, L.
Robledo, H. H.
Segura, F.
Dodelson de Kremer, Raquel
Balcells, S.
Grinberg, D.
Asteggiano, Carla Gabriela
author Delgado, M. A.
author_facet Delgado, M. A.
Martinez Domenech, G.
Sarrión, P.
Urreizti, R.
Zecchini, L.
Robledo, H. H.
Segura, F.
Dodelson de Kremer, Raquel
Balcells, S.
Grinberg, D.
Asteggiano, Carla Gabriela
author_role author
author2 Martinez Domenech, G.
Sarrión, P.
Urreizti, R.
Zecchini, L.
Robledo, H. H.
Segura, F.
Dodelson de Kremer, Raquel
Balcells, S.
Grinberg, D.
Asteggiano, Carla Gabriela
author2_role author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv EXT1/EXT2-CDG
O-glycosylation
osteochondroma
osteochondrosarcoma
topic EXT1/EXT2-CDG
O-glycosylation
osteochondroma
osteochondrosarcoma
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition. EXT1 and EXT2, are tumor suppressor genes that encode glycosyltransferases involved in heparan sulfate elongation. We present the clinical and molecular analysis of 33 unrelated Latin American patients (27 MO and 6 SO). Sixty-three percent of all MO cases presented severe phenotype and two malignant transformations to chondrosarcoma (7%). We found the mutant allele in 78% of MO patients. Ten mutations were novel. The disease-causing mutations remained unknown in 22% of the MO patients and in all SO patients. No second mutational hit was detected in the DNA of the secondary chondrosarcoma from a patient who carried a nonsense EXT1 mutation. Neither EXT1 nor EXT2 protein could be detected in this sample. This is the first Latin American research program on EXT1/EXT2-CDG.
Fil: Delgado, M. A.. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina
Fil: Martinez Domenech, G.. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina
Fil: Sarrión, P.. Universidad de Barcelona; España
Fil: Urreizti, R.. Universidad de Barcelona; España
Fil: Zecchini, L.. Hospital de Niños de la Santísima Trinidad; Argentina
Fil: Robledo, H. H.. Hospital de Niños de la Santísima Trinidad; Argentina
Fil: Segura, F.. Universidad Nacional de Córdoba; Argentina
Fil: Dodelson de Kremer, Raquel. Universidad Nacional de Córdoba. Facultad de Medicina; Argentina
Fil: Balcells, S.. Universidad de Barcelona; España
Fil: Grinberg, D.. Universidad de Barcelona; España
Fil: Asteggiano, Carla Gabriela. Universidad Nacional de Córdoba. Facultad de Medicina. Centro de Est.de Las Metabolopatias Congenitas. Cátedra de Clinica Pediatrica; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Córdoba; Argentina
description Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition. EXT1 and EXT2, are tumor suppressor genes that encode glycosyltransferases involved in heparan sulfate elongation. We present the clinical and molecular analysis of 33 unrelated Latin American patients (27 MO and 6 SO). Sixty-three percent of all MO cases presented severe phenotype and two malignant transformations to chondrosarcoma (7%). We found the mutant allele in 78% of MO patients. Ten mutations were novel. The disease-causing mutations remained unknown in 22% of the MO patients and in all SO patients. No second mutational hit was detected in the DNA of the secondary chondrosarcoma from a patient who carried a nonsense EXT1 mutation. Neither EXT1 nor EXT2 protein could be detected in this sample. This is the first Latin American research program on EXT1/EXT2-CDG.
publishDate 2014
dc.date.none.fl_str_mv 2014-07
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/199954
Delgado, M. A.; Martinez Domenech, G.; Sarrión, P.; Urreizti, R.; Zecchini, L.; et al.; A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG; Nature Publishing Group; Scientific Reports; 4; 7-2014; 1-7
2045-2322
CONICET Digital
CONICET
url http://hdl.handle.net/11336/199954
identifier_str_mv Delgado, M. A.; Martinez Domenech, G.; Sarrión, P.; Urreizti, R.; Zecchini, L.; et al.; A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG; Nature Publishing Group; Scientific Reports; 4; 7-2014; 1-7
2045-2322
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.nature.com/articles/srep06407
info:eu-repo/semantics/altIdentifier/doi/10.1038/srep06407
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Nature Publishing Group
publisher.none.fl_str_mv Nature Publishing Group
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 12.928904

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