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 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.

• 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/