title: Molecular analysis of exons 8, 9 and 10 of the fibroblast growth factor receptor 2 (FGFR2) gene in two families with index cases of Apert Syndrome.
abstract: BACKGROUND
  Apert syndrome (AS) is a craniosynostosis condition caused by mutations in the Fibroblast Growth Factor Receptor 2 (FGFR2) gene. Clinical features include cutaneous and osseous symmetric syndactily in hands and feet, with variable presentations in bones, brain, skin and other internal organs.
  
  
  METHODS
  Members of two families with an index case of Apert Syndrome were assessed to describe relevant clinical features and molecular analysis (sequencing and amplification) of exons 8, 9 and 10 of FGFR2 gen.
  
  
  RESULTS
  Family 1 consists of the mother, the index case and half -brother who has a cleft lip and palate. In this family we found a single FGFR2 mutation, S252W, in the sequence of exon 8. Although mutations were not found in the study of the patient affected with cleft lip and palate, it is known that these diseases share signaling pathways, allowing suspected alterations in shared genes. In the patient of family 2, we found a sequence variant T78.501A located near the splicing site, which could interfere in this process, and consequently with the protein function.
authors.affiliation: Grupo Ciencias Básicas en Salud CBS. Fundación Universitaria de Ciencias de la Salud. Bogota, Colombia.
authors.forename: Lilian
authors.initials: L
authors.lastname: Torres
authors.affiliation: Grupo Ciencias Básicas en Salud CBS. Fundación Universitaria de Ciencias de la Salud. Bogota, Colombia.
authors.forename: Gualberto
authors.initials: G
authors.lastname: Hernández
authors.affiliation: Grupo Ciencias Básicas en Salud CBS. Fundación Universitaria de Ciencias de la Salud. Bogota, Colombia.
authors.forename: Alejandro
authors.initials: A
authors.lastname: Barrera
authors.affiliation: SaludCoop, Universidad del Rosario, Bogotá, Colombia.
authors.forename: Sandra
authors.initials: S
authors.lastname: Ospina
authors.affiliation: Fundación Universitaria de Ciencias de la Salud. Hospital Infantil Universitario de San José. Bogotá, Colombia.
authors.forename: Rolando
authors.initials: R
authors.lastname: Prada
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics* / Q000503:physiopathology; D005091:Exons; D005260:Female; D005784:Gene Amplification; D006801:Humans; D008297:Male; D009154:Mutation; D051497:Receptor, Fibroblast Growth Factor, Type 2 / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D051497:Receptor, Fibroblast Growth Factor, Type 2
keywords: Apert syndrome; FGFR2 gene; cleft palate; intron; mutation