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
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/199954
Ver los metadatos del registro completo
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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 Técnicas2025-09-29T10:32:31Zoai: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:34982025-09-29 10:32:31.348CONICET 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 |
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CONICET Digital (CONICET) |
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CONICET Digital (CONICET) |
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Consejo Nacional de Investigaciones Científicas y Técnicas |
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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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13.070432 |