Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas

Autores
Sarrión, P.; Sangorrin, A.; Urreizti, R.; Delgado, María Andrea; Artuch, R.; Martorell, L.; Armstrong, J.; Anton, J.; Torner, F.; Vilaseca, M. A.; Nevado, J.; Lapunzina, P.; Asteggiano, Carla Gabriela; Balcells, S.; Grinberg, D.
Año de publicación
2013
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.
Fil: Sarrión, P.. Universidad de Barcelona; España
Fil: Sangorrin, A.. Hospital Sant Joan de Déu; España
Fil: Urreizti, R.. Universidad de Barcelona; España
Fil: Delgado, María Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Córdoba; Argentina
Fil: Artuch, R.. Hospital Sant Joan de Déu; España
Fil: Martorell, L.. Hospital Sant Joan de Déu; España
Fil: Armstrong, J.. Hospital Sant Joan de Déu; España
Fil: Anton, J.. Hospital Sant Joan de Déu; España
Fil: Torner, F.. Hospital Sant Joan de Déu; España
Fil: Vilaseca, M. A.. Hospital Sant Joan de Déu; España
Fil: Nevado, J.. Hospital Universitario La Paz; España
Fil: Lapunzina, P.. Hospital Universitario La Paz; España
Fil: Asteggiano, Carla Gabriela. Universidad Nacional de Córdoba; Argentina. Universidad Católica de Córdoba; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Balcells, S.. Universidad de Barcelona; España
Fil: Grinberg, D.. Universidad de Barcelona; España
Materia
Multiple osteochondromas
METABOLIC DISORDERS
Bone tumours
EXT genes
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/26916
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/26916
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromasSarrión, P.Sangorrin, A.Urreizti, R.Delgado, María AndreaArtuch, R.Martorell, L.Armstrong, J.Anton, J.Torner, F.Vilaseca, M. A.Nevado, J.Lapunzina, P.Asteggiano, Carla GabrielaBalcells, S.Grinberg, D.Multiple osteochondromasMETABOLIC DISORDERSBone tumoursEXT geneshttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.Fil: Sarrión, P.. Universidad de Barcelona; EspañaFil: Sangorrin, A.. Hospital Sant Joan de Déu; EspañaFil: Urreizti, R.. Universidad de Barcelona; EspañaFil: Delgado, María Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Córdoba; ArgentinaFil: Artuch, R.. Hospital Sant Joan de Déu; EspañaFil: Martorell, L.. Hospital Sant Joan de Déu; EspañaFil: Armstrong, J.. Hospital Sant Joan de Déu; EspañaFil: Anton, J.. Hospital Sant Joan de Déu; EspañaFil: Torner, F.. Hospital Sant Joan de Déu; EspañaFil: Vilaseca, M. A.. Hospital Sant Joan de Déu; EspañaFil: Nevado, J.. Hospital Universitario La Paz; EspañaFil: Lapunzina, P.. Hospital Universitario La Paz; EspañaFil: Asteggiano, Carla Gabriela. Universidad Nacional de Córdoba; Argentina. Universidad Católica de Córdoba; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Balcells, S.. Universidad de Barcelona; EspañaFil: Grinberg, D.. Universidad de Barcelona; EspañaNature Publishing Group2013-02info: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/11336/26916Sarrión, P.; Sangorrin, A.; Urreizti, R.; Delgado, María Andrea; Artuch, R. ; et al.; Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas; Nature Publishing Group; Scientific Reports; 3; 2-2013; 1-7; 13462045-2322CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1038/srep01346info:eu-repo/semantics/altIdentifier/url/https://www.nature.com/articles/srep01346info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581825/info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T09:38:52Zoai:ri.conicet.gov.ar:11336/26916instacron: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 09:38:53.098CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
title Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
spellingShingle Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
Sarrión, P.
Multiple osteochondromas
METABOLIC DISORDERS
Bone tumours
EXT genes
title_short Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
title_full Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
title_fullStr Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
title_full_unstemmed Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
title_sort Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas
dc.creator.none.fl_str_mv Sarrión, P.
Sangorrin, A.
Urreizti, R.
Delgado, María Andrea
Artuch, R.
Martorell, L.
Armstrong, J.
Anton, J.
Torner, F.
Vilaseca, M. A.
Nevado, J.
Lapunzina, P.
Asteggiano, Carla Gabriela
Balcells, S.
Grinberg, D.
author Sarrión, P.
author_facet Sarrión, P.
Sangorrin, A.
Urreizti, R.
Delgado, María Andrea
Artuch, R.
Martorell, L.
Armstrong, J.
Anton, J.
Torner, F.
Vilaseca, M. A.
Nevado, J.
Lapunzina, P.
Asteggiano, Carla Gabriela
Balcells, S.
Grinberg, D.
author_role author
author2 Sangorrin, A.
Urreizti, R.
Delgado, María Andrea
Artuch, R.
Martorell, L.
Armstrong, J.
Anton, J.
Torner, F.
Vilaseca, M. A.
Nevado, J.
Lapunzina, P.
Asteggiano, Carla Gabriela
Balcells, S.
Grinberg, D.
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Multiple osteochondromas
METABOLIC DISORDERS
Bone tumours
EXT genes
topic Multiple osteochondromas
METABOLIC DISORDERS
Bone tumours
EXT genes
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.
Fil: Sarrión, P.. Universidad de Barcelona; España
Fil: Sangorrin, A.. Hospital Sant Joan de Déu; España
Fil: Urreizti, R.. Universidad de Barcelona; España
Fil: Delgado, María Andrea. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad Nacional de Córdoba; Argentina
Fil: Artuch, R.. Hospital Sant Joan de Déu; España
Fil: Martorell, L.. Hospital Sant Joan de Déu; España
Fil: Armstrong, J.. Hospital Sant Joan de Déu; España
Fil: Anton, J.. Hospital Sant Joan de Déu; España
Fil: Torner, F.. Hospital Sant Joan de Déu; España
Fil: Vilaseca, M. A.. Hospital Sant Joan de Déu; España
Fil: Nevado, J.. Hospital Universitario La Paz; España
Fil: Lapunzina, P.. Hospital Universitario La Paz; España
Fil: Asteggiano, Carla Gabriela. Universidad Nacional de Córdoba; Argentina. Universidad Católica de Córdoba; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina
Fil: Balcells, S.. Universidad de Barcelona; España
Fil: Grinberg, D.. Universidad de Barcelona; España
description Multiple osteochondromas is an autosomal dominant skeletal disorder characterized by the formation of multiple cartilage-capped tumours. Two causal genes have been identified, EXT1 and EXT2, which account for 65% and 30% of cases, respectively. We have undertaken a mutation analysis of the EXT1 and EXT2 genes in 39 unrelated Spanish patients, most of them with moderate phenotype, and looked for genotype-phenotype correlations. We found the mutant allele in 37 patients, 29 in EXT1 and 8 in EXT2. Five of the EXT1 mutations were deletions identified by MLPA. Two cases of mosaicism were documented. We detected a lower number of exostoses in patients with missense mutation versus other kinds of mutations. In conclusion, we found a mutation in EXT1 or in EXT2 in 95% of the Spanish patients. Eighteen of the mutations were novel.
publishDate 2013
dc.date.none.fl_str_mv 2013-02
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/11336/26916
Sarrión, P.; Sangorrin, A.; Urreizti, R.; Delgado, María Andrea; Artuch, R. ; et al.; Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas; Nature Publishing Group; Scientific Reports; 3; 2-2013; 1-7; 1346
2045-2322
CONICET Digital
CONICET
url http://hdl.handle.net/11336/26916
identifier_str_mv Sarrión, P.; Sangorrin, A.; Urreizti, R.; Delgado, María Andrea; Artuch, R. ; et al.; Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas; Nature Publishing Group; Scientific Reports; 3; 2-2013; 1-7; 1346
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/doi/10.1038/srep01346
info:eu-repo/semantics/altIdentifier/url/https://www.nature.com/articles/srep01346
info:eu-repo/semantics/altIdentifier/url/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3581825/
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/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 13.070432

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