Report of a novel mutation in the slc26a2 gene found in a colombian adult patient with diastrophic dysplasia
Diastrophic Dysplasia is an osteochondrodysplasia belonging to the group of dysplasias caused by mutations in the diastrophic dysplasia sulfate transporter.Thissyndromeis amicromelic dysplasia with multiplebone deformities of the hands, feet, knees and spine. Inthis paper we report a Colombian adult...
- Autores:
-
Pineda, Tatiana
Rossi, Antonio
Bonafe, Luisa
Superti-Furga, Andrea
Velasco Parra, Harvy Mauricio
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2013
- Institución:
- Universidad Nacional de Colombia
- Repositorio:
- Universidad Nacional de Colombia
- Idioma:
- spa
- OAI Identifier:
- oai:repositorio.unal.edu.co:unal/72253
- Acceso en línea:
- https://repositorio.unal.edu.co/handle/unal/72253
http://bdigital.unal.edu.co/36726/
- Palabra clave:
- Diastrophic Dysplasia
Colombian patient
Ser157Thr substitution
SLC26A2 gene
- Rights
- openAccess
- License
- Atribución-NoComercial 4.0 Internacional
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Atribución-NoComercial 4.0 InternacionalDerechos reservados - Universidad Nacional de Colombiahttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Pineda, Tatianae7d07e95-626b-4047-98cf-6a4950bb51bd300Rossi, Antonio5093fb19-1c4c-42e0-9327-f9e25cf213fa300Bonafe, Luisaf32a2c5d-051f-4be5-9205-7012ad8ee69d300Superti-Furga, Andreaff5d1b76-3d97-4d43-a259-b2afd0691813300Velasco Parra, Harvy Mauricioe9cfdf99-fa02-4fe7-b6d7-6a4bd6f85d4f3002019-07-03T15:02:02Z2019-07-03T15:02:02Z2013https://repositorio.unal.edu.co/handle/unal/72253http://bdigital.unal.edu.co/36726/Diastrophic Dysplasia is an osteochondrodysplasia belonging to the group of dysplasias caused by mutations in the diastrophic dysplasia sulfate transporter.Thissyndromeis amicromelic dysplasia with multiplebone deformities of the hands, feet, knees and spine. Inthis paper we report a Colombian adult patient with diastrophic dysplasia whose clinical diagnosis was confirmed at the molecular level. In this first report of diastrophic dysplasia in Colombia we found that the patient was compound heterozygote for the already reported Arg279Trp substitution and an unpublished mutation, a Ser157Thr substitution in the SLC26A2 gene. Bioinformatic analysis on the latter mutation suggested that it could correspond to a deleterious mutation because it is in a highly conserved domain of the sulfate transporter.application/mswordspaFacultad de Medicina. Universidad Nacional de Colombia. Sede Bogotáhttp://revistas.unal.edu.co/index.php/revfacmed/article/view/37691Universidad Nacional de Colombia Revistas electrónicas UN Revista de la Facultad de MedicinaRevista de la Facultad de MedicinaRevista de la Facultad de Medicina; Vol. 61, núm. 3 (2013) 2357-3848 0120-0011Pineda, Tatiana and Rossi, Antonio and Bonafe, Luisa and Superti-Furga, Andrea and Velasco Parra, Harvy Mauricio (2013) Report of a novel mutation in the slc26a2 gene found in a colombian adult patient with diastrophic dysplasia. Revista de la Facultad de Medicina; Vol. 61, núm. 3 (2013) 2357-3848 0120-0011 .Report of a novel mutation in the slc26a2 gene found in a colombian adult patient with diastrophic dysplasiaArtículo de revistainfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1http://purl.org/coar/version/c_970fb48d4fbd8a85Texthttp://purl.org/redcol/resource_type/ARTDiastrophic DysplasiaColombian patientSer157Thr substitutionSLC26A2 geneORIGINAL37691-167043-1-SP.docxapplication/vnd.openxmlformats-officedocument.wordprocessingml.document283083https://repositorio.unal.edu.co/bitstream/unal/72253/1/37691-167043-1-SP.docxeda8eae8cf1878239589ea363aae065fMD51unal/72253oai:repositorio.unal.edu.co:unal/722532021-04-26 10:13:40.627Repositorio Institucional Universidad Nacional de Colombiarepositorio_nal@unal.edu.co |
| dc.title.spa.fl_str_mv |
Report of a novel mutation in the slc26a2 gene found in a colombian adult patient with diastrophic dysplasia |
| title |
Report of a novel mutation in the slc26a2 gene found in a colombian adult patient with diastrophic dysplasia |
| spellingShingle |
Report of a novel mutation in the slc26a2 gene found in a colombian adult patient with diastrophic dysplasia Diastrophic Dysplasia Colombian patient Ser157Thr substitution SLC26A2 gene |
| title_short |
Report of a novel mutation in the slc26a2 gene found in a colombian adult patient with diastrophic dysplasia |
| title_full |
Report of a novel mutation in the slc26a2 gene found in a colombian adult patient with diastrophic dysplasia |
| title_fullStr |
Report of a novel mutation in the slc26a2 gene found in a colombian adult patient with diastrophic dysplasia |
| title_full_unstemmed |
Report of a novel mutation in the slc26a2 gene found in a colombian adult patient with diastrophic dysplasia |
| title_sort |
Report of a novel mutation in the slc26a2 gene found in a colombian adult patient with diastrophic dysplasia |
| dc.creator.fl_str_mv |
Pineda, Tatiana Rossi, Antonio Bonafe, Luisa Superti-Furga, Andrea Velasco Parra, Harvy Mauricio |
| dc.contributor.author.spa.fl_str_mv |
Pineda, Tatiana Rossi, Antonio Bonafe, Luisa Superti-Furga, Andrea Velasco Parra, Harvy Mauricio |
| dc.subject.proposal.spa.fl_str_mv |
Diastrophic Dysplasia Colombian patient Ser157Thr substitution SLC26A2 gene |
| topic |
Diastrophic Dysplasia Colombian patient Ser157Thr substitution SLC26A2 gene |
| description |
Diastrophic Dysplasia is an osteochondrodysplasia belonging to the group of dysplasias caused by mutations in the diastrophic dysplasia sulfate transporter.Thissyndromeis amicromelic dysplasia with multiplebone deformities of the hands, feet, knees and spine. Inthis paper we report a Colombian adult patient with diastrophic dysplasia whose clinical diagnosis was confirmed at the molecular level. In this first report of diastrophic dysplasia in Colombia we found that the patient was compound heterozygote for the already reported Arg279Trp substitution and an unpublished mutation, a Ser157Thr substitution in the SLC26A2 gene. Bioinformatic analysis on the latter mutation suggested that it could correspond to a deleterious mutation because it is in a highly conserved domain of the sulfate transporter. |
| publishDate |
2013 |
| dc.date.issued.spa.fl_str_mv |
2013 |
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2019-07-03T15:02:02Z |
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2019-07-03T15:02:02Z |
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Artículo de revista |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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info:eu-repo/semantics/article |
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http://purl.org/coar/resource_type/c_6501 |
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http://purl.org/coar/version/c_970fb48d4fbd8a85 |
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Text |
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http://purl.org/redcol/resource_type/ART |
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http://purl.org/coar/resource_type/c_6501 |
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publishedVersion |
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https://repositorio.unal.edu.co/handle/unal/72253 |
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http://bdigital.unal.edu.co/36726/ |
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https://repositorio.unal.edu.co/handle/unal/72253 http://bdigital.unal.edu.co/36726/ |
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spa |
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spa |
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http://revistas.unal.edu.co/index.php/revfacmed/article/view/37691 |
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Universidad Nacional de Colombia Revistas electrónicas UN Revista de la Facultad de Medicina Revista de la Facultad de Medicina |
| dc.relation.ispartofseries.none.fl_str_mv |
Revista de la Facultad de Medicina; Vol. 61, núm. 3 (2013) 2357-3848 0120-0011 |
| dc.relation.references.spa.fl_str_mv |
Pineda, Tatiana and Rossi, Antonio and Bonafe, Luisa and Superti-Furga, Andrea and Velasco Parra, Harvy Mauricio (2013) Report of a novel mutation in the slc26a2 gene found in a colombian adult patient with diastrophic dysplasia. Revista de la Facultad de Medicina; Vol. 61, núm. 3 (2013) 2357-3848 0120-0011 . |
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Derechos reservados - Universidad Nacional de Colombia |
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Atribución-NoComercial 4.0 Internacional |
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info:eu-repo/semantics/openAccess |
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Atribución-NoComercial 4.0 Internacional Derechos reservados - Universidad Nacional de Colombia http://creativecommons.org/licenses/by-nc/4.0/ http://purl.org/coar/access_right/c_abf2 |
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