Mutations in FOXL2Underlying BPES (Types 1 and 2) in Colombian Families
ABSTRACT: We report the genetic characterization ofone family with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) type 1and two families with BPES type 2 from a historically isolated population in north-west Colombia. Linkage and haplotype ana-lyses indicate that BPES in these families...
- Autores:
-
Ramírez Castro, José Luis
Pineda Trujillo, Nicolás Guillermo
Valencia Duarte, Ana Victoria
Muñetón Peña, Carlos Mario
Botero Galeano, Olga
Trujillo, Olga
Vásquez Palacio, Gonzalo de Jesús
Mora Henao, Beatríz Eugenia
Durango Calle, Nora Elena
Bedoya Berrío, Gabriel de Jesús
Ruíz Linares, Andrés
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2002
- Institución:
- Universidad de Antioquia
- Repositorio:
- Repositorio UdeA
- Idioma:
- eng
- OAI Identifier:
- oai:bibliotecadigital.udea.edu.co:10495/26756
- Acceso en línea:
- http://hdl.handle.net/10495/26756
- Palabra clave:
- Blepharophimosis
Blefarofimosis
Cromosomas Humanos Par 3
Chromosomes, Human, Pair 3
Colombia / etnología
Colombia - ethnology
Proteínas de Unión al ADN - genética
DNA-Binding Proteins - genetics
Párpados - anomalías
Eyelids - abnormalities
Proteína Forkhead Box L2
Forkhead Box Protein L2
Factores de Transcripción Forkhead
Forkhead Transcription Factors
Marcadores Genéticos
Genetic Markers
Haplotipos
Haplotypes
- Rights
- openAccess
- License
- http://creativecommons.org/licenses/by-nc-nd/2.5/co/
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| dc.title.spa.fl_str_mv |
Mutations in FOXL2Underlying BPES (Types 1 and 2) in Colombian Families |
| title |
Mutations in FOXL2Underlying BPES (Types 1 and 2) in Colombian Families |
| spellingShingle |
Mutations in FOXL2Underlying BPES (Types 1 and 2) in Colombian Families Blepharophimosis Blefarofimosis Cromosomas Humanos Par 3 Chromosomes, Human, Pair 3 Colombia / etnología Colombia - ethnology Proteínas de Unión al ADN - genética DNA-Binding Proteins - genetics Párpados - anomalías Eyelids - abnormalities Proteína Forkhead Box L2 Forkhead Box Protein L2 Factores de Transcripción Forkhead Forkhead Transcription Factors Marcadores Genéticos Genetic Markers Haplotipos Haplotypes |
| title_short |
Mutations in FOXL2Underlying BPES (Types 1 and 2) in Colombian Families |
| title_full |
Mutations in FOXL2Underlying BPES (Types 1 and 2) in Colombian Families |
| title_fullStr |
Mutations in FOXL2Underlying BPES (Types 1 and 2) in Colombian Families |
| title_full_unstemmed |
Mutations in FOXL2Underlying BPES (Types 1 and 2) in Colombian Families |
| title_sort |
Mutations in FOXL2Underlying BPES (Types 1 and 2) in Colombian Families |
| dc.creator.fl_str_mv |
Ramírez Castro, José Luis Pineda Trujillo, Nicolás Guillermo Valencia Duarte, Ana Victoria Muñetón Peña, Carlos Mario Botero Galeano, Olga Trujillo, Olga Vásquez Palacio, Gonzalo de Jesús Mora Henao, Beatríz Eugenia Durango Calle, Nora Elena Bedoya Berrío, Gabriel de Jesús Ruíz Linares, Andrés |
| dc.contributor.author.none.fl_str_mv |
Ramírez Castro, José Luis Pineda Trujillo, Nicolás Guillermo Valencia Duarte, Ana Victoria Muñetón Peña, Carlos Mario Botero Galeano, Olga Trujillo, Olga Vásquez Palacio, Gonzalo de Jesús Mora Henao, Beatríz Eugenia Durango Calle, Nora Elena Bedoya Berrío, Gabriel de Jesús Ruíz Linares, Andrés |
| dc.contributor.researchgroup.spa.fl_str_mv |
Genética Médica Genética Regeneración y Cáncer Grupo de Investigación Clínica en Enfermedades del Niño y del Adolescente - Pediaciencias Grupo Mapeo Genético |
| dc.subject.decs.none.fl_str_mv |
Blepharophimosis Blefarofimosis Cromosomas Humanos Par 3 Chromosomes, Human, Pair 3 Colombia / etnología Colombia - ethnology Proteínas de Unión al ADN - genética DNA-Binding Proteins - genetics Párpados - anomalías Eyelids - abnormalities Proteína Forkhead Box L2 Forkhead Box Protein L2 Factores de Transcripción Forkhead Forkhead Transcription Factors Marcadores Genéticos Genetic Markers Haplotipos Haplotypes |
| topic |
Blepharophimosis Blefarofimosis Cromosomas Humanos Par 3 Chromosomes, Human, Pair 3 Colombia / etnología Colombia - ethnology Proteínas de Unión al ADN - genética DNA-Binding Proteins - genetics Párpados - anomalías Eyelids - abnormalities Proteína Forkhead Box L2 Forkhead Box Protein L2 Factores de Transcripción Forkhead Forkhead Transcription Factors Marcadores Genéticos Genetic Markers Haplotipos Haplotypes |
| description |
ABSTRACT: We report the genetic characterization ofone family with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) type 1and two families with BPES type 2 from a historically isolated population in north-west Colombia. Linkage and haplotype ana-lyses indicate that BPES in these families is linked to 3q23. Mutation screening ofFOXL2in the family with BPES type 1 revealed anovel 394C!T non sense mutation whichdeletes the forkhead DNA binding domain. The two families with BPES type 2 both carryan in-frame 30 bp duplication that leads t othe elongation of a polyalanine tract. This duplication has been previously reported inEurope, where recurrent mutation has beendemonstrated in unrelated familial and spo-radic BPES cases. The recurrent nature ofthis duplication seems to relate to the sec-ondary structure of this DNA region. Thegenotype–phenotype correlation seen inthe Colombian families is consistent with the recent proposal that BPES type 1 iscaused by truncating mutations leading tohaplo insufficiency, while BPES type 2 is dueto mutations generating elongated protein products. |
| publishDate |
2002 |
| dc.date.issued.none.fl_str_mv |
2002 |
| dc.date.accessioned.none.fl_str_mv |
2022-03-20T17:19:00Z |
| dc.date.available.none.fl_str_mv |
2022-03-20T17:19:00Z |
| dc.type.spa.fl_str_mv |
Artículo de investigación |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
| dc.type.redcol.spa.fl_str_mv |
https://purl.org/redcol/resource_type/ART |
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info:eu-repo/semantics/article |
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info:eu-repo/semantics/acceptedVersion |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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acceptedVersion |
| dc.identifier.citation.spa.fl_str_mv |
Ramírez, J., Pineda, N., Valencia, A., Muñetón, C., Botero, O., Trujillo, O., Vásquez, G., Mora, B., Durango, N., Bedoya, G. and Ruiz, A. (2002), Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families. Am. J. Med. Genet., 113: 47-51. https://doi.org/10.1002/ajmg.10741 |
| dc.identifier.issn.none.fl_str_mv |
0148-7299 |
| dc.identifier.uri.none.fl_str_mv |
http://hdl.handle.net/10495/26756 |
| dc.identifier.doi.none.fl_str_mv |
10.1002/ajmg.10741 |
| dc.identifier.eissn.none.fl_str_mv |
1096-8628 |
| identifier_str_mv |
Ramírez, J., Pineda, N., Valencia, A., Muñetón, C., Botero, O., Trujillo, O., Vásquez, G., Mora, B., Durango, N., Bedoya, G. and Ruiz, A. (2002), Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families. Am. J. Med. Genet., 113: 47-51. https://doi.org/10.1002/ajmg.10741 0148-7299 10.1002/ajmg.10741 1096-8628 |
| url |
http://hdl.handle.net/10495/26756 |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.ispartofjournalabbrev.spa.fl_str_mv |
Am. J. Med. Genet. |
| dc.relation.citationendpage.spa.fl_str_mv |
51 |
| dc.relation.citationissue.spa.fl_str_mv |
1 |
| dc.relation.citationstartpage.spa.fl_str_mv |
47 |
| dc.relation.citationvolume.spa.fl_str_mv |
113 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
American Journal of Medical Genetics |
| dc.rights.uri.*.fl_str_mv |
http://creativecommons.org/licenses/by-nc-nd/2.5/co/ |
| dc.rights.uri.spa.fl_str_mv |
https://creativecommons.org/licenses/by-nc-nd/4.0/ |
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info:eu-repo/semantics/openAccess |
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Wiley-Blackwell |
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Nueva York, Estados Unidos |
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Ramírez Castro, José LuisPineda Trujillo, Nicolás GuillermoValencia Duarte, Ana VictoriaMuñetón Peña, Carlos MarioBotero Galeano, OlgaTrujillo, OlgaVásquez Palacio, Gonzalo de JesúsMora Henao, Beatríz EugeniaDurango Calle, Nora ElenaBedoya Berrío, Gabriel de JesúsRuíz Linares, AndrésGenética MédicaGenética Regeneración y CáncerGrupo de Investigación Clínica en Enfermedades del Niño y del Adolescente - PediacienciasGrupo Mapeo Genético2022-03-20T17:19:00Z2022-03-20T17:19:00Z2002Ramírez, J., Pineda, N., Valencia, A., Muñetón, C., Botero, O., Trujillo, O., Vásquez, G., Mora, B., Durango, N., Bedoya, G. and Ruiz, A. (2002), Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families. Am. J. Med. Genet., 113: 47-51. https://doi.org/10.1002/ajmg.107410148-7299http://hdl.handle.net/10495/2675610.1002/ajmg.107411096-8628ABSTRACT: We report the genetic characterization ofone family with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) type 1and two families with BPES type 2 from a historically isolated population in north-west Colombia. Linkage and haplotype ana-lyses indicate that BPES in these families is linked to 3q23. Mutation screening ofFOXL2in the family with BPES type 1 revealed anovel 394C!T non sense mutation whichdeletes the forkhead DNA binding domain. The two families with BPES type 2 both carryan in-frame 30 bp duplication that leads t othe elongation of a polyalanine tract. This duplication has been previously reported inEurope, where recurrent mutation has beendemonstrated in unrelated familial and spo-radic BPES cases. The recurrent nature ofthis duplication seems to relate to the sec-ondary structure of this DNA region. Thegenotype–phenotype correlation seen inthe Colombian families is consistent with the recent proposal that BPES type 1 iscaused by truncating mutations leading tohaplo insufficiency, while BPES type 2 is dueto mutations generating elongated protein products.COL0050839COL0006769COL0058784COL00574915application/pdfengWiley-BlackwellNueva York, Estados Unidoshttp://creativecommons.org/licenses/by-nc-nd/2.5/co/https://creativecommons.org/licenses/by-nc-nd/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Mutations in FOXL2Underlying BPES (Types 1 and 2) in Colombian FamiliesArtículo de investigaciónhttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARTinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersionBlepharophimosisBlefarofimosisCromosomas Humanos Par 3Chromosomes, Human, Pair 3Colombia / etnologíaColombia - ethnologyProteínas de Unión al ADN - genéticaDNA-Binding Proteins - geneticsPárpados - anomalíasEyelids - abnormalitiesProteína Forkhead Box L2Forkhead Box Protein L2Factores de Transcripción ForkheadForkhead Transcription FactorsMarcadores GenéticosGenetic MarkersHaplotiposHaplotypesAm. 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