MUTATIONS IN THE EXT1 AND EXT2 GENES IN SPANISH PATIENTS WITH MULTIPLE OSTEOCHONDROMAS
- Autores
- P. Sarrión; A.Sangorrin; R. Urreizti ; A. Delgado ; R. Artuch ; L. Martorell ; J. Armstrong ; J, Anton; F.Torner ; M.A. Villaseca; J.Nevado ; P.Lapunzina ; C.G. Asteggiano; S. Balcells; D. Grinberg
- 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.Wefound the mutant allele in 37 patients, 29 inEXT1 and 8 inEXT2. 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.
publishedVersion
Otras Ciencias de la Salud - Materia
- Multiple osteochondromas; METABOLIC DISORDERS; Bone tumours; EXT genes
- Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- Repositorio
- Institución
- Universidad Nacional de Córdoba
- OAI Identificador
- oai:rdu.unc.edu.ar:11086/13439
Ver los metadatos del registro completo
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oai:rdu.unc.edu.ar:11086/13439 |
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repository_id_str |
2572 |
network_name_str |
Repositorio Digital Universitario (UNC) |
spelling |
MUTATIONS IN THE EXT1 AND EXT2 GENES IN SPANISH PATIENTS WITH MULTIPLE OSTEOCHONDROMASP. Sarrión; A.Sangorrin; R. Urreizti ; A. Delgado ; R. Artuch ; L. Martorell ; J. Armstrong ; J, Anton; F.Torner ; M.A. Villaseca; J.Nevado ; P.Lapunzina ; C.G. Asteggiano; S. Balcells; D. GrinbergMultiple osteochondromas; METABOLIC DISORDERS; Bone tumours; EXT genesMultiple 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.Wefound the mutant allele in 37 patients, 29 inEXT1 and 8 inEXT2. 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.publishedVersionOtras Ciencias de la Salud2013info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdf2045-2322http://hdl.handle.net/11086/13439enginfo:eu-repo/semantics/openAccessreponame:Repositorio Digital Universitario (UNC)instname:Universidad Nacional de Córdobainstacron:UNC2025-09-29T13:41:39Zoai:rdu.unc.edu.ar:11086/13439Institucionalhttps://rdu.unc.edu.ar/Universidad públicaNo correspondehttp://rdu.unc.edu.ar/oai/snrdoca.unc@gmail.comArgentinaNo correspondeNo correspondeNo correspondeopendoar:25722025-09-29 13:41:40.139Repositorio Digital Universitario (UNC) - Universidad Nacional de Córdobafalse |
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 P. Sarrión; A.Sangorrin; R. Urreizti ; A. Delgado ; R. Artuch ; L. Martorell ; J. Armstrong ; J, Anton; F.Torner ; M.A. Villaseca; J.Nevado ; P.Lapunzina ; C.G. Asteggiano; S. Balcells; D. Grinberg 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 |
P. Sarrión; A.Sangorrin; R. Urreizti ; A. Delgado ; R. Artuch ; L. Martorell ; J. Armstrong ; J, Anton; F.Torner ; M.A. Villaseca; J.Nevado ; P.Lapunzina ; C.G. Asteggiano; S. Balcells; D. Grinberg |
author |
P. Sarrión; A.Sangorrin; R. Urreizti ; A. Delgado ; R. Artuch ; L. Martorell ; J. Armstrong ; J, Anton; F.Torner ; M.A. Villaseca; J.Nevado ; P.Lapunzina ; C.G. Asteggiano; S. Balcells; D. Grinberg |
author_facet |
P. Sarrión; A.Sangorrin; R. Urreizti ; A. Delgado ; R. Artuch ; L. Martorell ; J. Armstrong ; J, Anton; F.Torner ; M.A. Villaseca; J.Nevado ; P.Lapunzina ; C.G. Asteggiano; S. Balcells; D. Grinberg |
author_role |
author |
dc.subject.none.fl_str_mv |
Multiple osteochondromas; METABOLIC DISORDERS; Bone tumours; EXT genes |
topic |
Multiple osteochondromas; METABOLIC DISORDERS; Bone tumours; EXT genes |
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.Wefound the mutant allele in 37 patients, 29 inEXT1 and 8 inEXT2. 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. publishedVersion Otras Ciencias de la Salud |
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.Wefound the mutant allele in 37 patients, 29 inEXT1 and 8 inEXT2. 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 |
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 |
2045-2322 http://hdl.handle.net/11086/13439 |
identifier_str_mv |
2045-2322 |
url |
http://hdl.handle.net/11086/13439 |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
|
publisher.none.fl_str_mv |
|
dc.source.none.fl_str_mv |
reponame:Repositorio Digital Universitario (UNC) instname:Universidad Nacional de Córdoba instacron:UNC |
reponame_str |
Repositorio Digital Universitario (UNC) |
collection |
Repositorio Digital Universitario (UNC) |
instname_str |
Universidad Nacional de Córdoba |
instacron_str |
UNC |
institution |
UNC |
repository.name.fl_str_mv |
Repositorio Digital Universitario (UNC) - Universidad Nacional de Córdoba |
repository.mail.fl_str_mv |
oca.unc@gmail.com |
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1844618907854307328 |
score |
13.070432 |