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

https://doi.org/10.25100/cm.v46i3.1868

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Published: Sep 30, 2015
Updated: 2015-09-30
Issue: Vol. 46 No. 3 (2015)
Section Case Report

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Authors

Lilian Torres Fundación Universitaria de Ciencias de la Salud. Bogota, Colomb
Guaberto Yesid Hernández Acevedo Fundación Universitaria de Ciencias de la Salud. Bogota, Colomb
Alejandro Barrera Fundación Universitaria de Ciencias de la Salud. Bogota, Colombia
Sandra Ospina SaludCoop, Universidad del Rosario, Bogotá, Colombia
Rolando Prada Fundación Universitaria de Ciencias de la Salud. Hospital Infantil Universitario de San José. Bogota, Colomb
Abstract
Introduction: 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
Keywords
  • Craniosynostosis
  • Apert syndrome
  • Cleft palate
  • Mutation
  • Intron
  • FGFR2 gene.
Author Biographies

Lilian Torres, Fundación Universitaria de Ciencias de la Salud. Bogota, Colomb

Grupo Ciencias Básicas en Salud CBS.

Guaberto Yesid Hernández Acevedo, Fundación Universitaria de Ciencias de la Salud. Bogota, Colomb

Grupo Ciencias Básicas en Salud CBS.

Alejandro Barrera, Fundación Universitaria de Ciencias de la Salud. Bogota, Colombia

Grupo Ciencias Básicas en Salud CBS.
References

Tiller G. Apert syndrome. Available in:http://omim.org/entry/101200http://omim.org/entry/101200. 15 January 2013

Bhatt S, Diaz R, Trainor P. Signals and switches in mammalian neural crest cell differentiation. Cold Spring Harb Perspect Biol. 2013;5(2)pii: a008326 DOI: https://doi.org/10.1101/cshperspect.a008326

Wilkie AO, Slaney SF, Oldridge M, Poole MD, Ashworth GJ, Hockley AD, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995;9:165–172 DOI: https://doi.org/10.1038/ng0295-165

O'Neill M. Fibroblast Growth Factor Receptor 2. a Available in:http://omim.org/entry/176943http://omim.org/entry/176943 . 18 January 2013

Slaney SF, Oldridge M, Hurst JA, Moriss-Kay GM, Hall CM, Poole MD, et al. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet. 1996;58:923–932

Riley BM, Mansilla MA, Ma J, Daack-Hirsch S, Maher BS, Raffensperger LM, et al. Impaired FGF signaling contributes to cleft lip and palate. Proc Natl Acad Sci. 2007;104:4512–4517 DOI: https://doi.org/10.1073/pnas.0607956104

Ibrahimi OA, Eliseenkova AV, Plotnikov AN, Yu K, Ornitz DM, Mohammadi M. Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome. Proc Natl Acad Sci. 2001;98:7182–7187 DOI: https://doi.org/10.1073/pnas.121183798

Stanier P, Pauws E. Development of the lip and palateFGF signalling. Front Oral Biol. 2012;16:71–80 DOI: https://doi.org/10.1159/000337618

Hajihosseini MK, Wilson S, De Moerlooze L, Dickson C. A splicing swich and gain-of-function mutaton inFgfR2-III hemizigotes causes Apert/Pfeiffer syndrome-Like phenotypes. Proc Natl Acad Sci. 2001;98:3855–3860 DOI: https://doi.org/10.1073/pnas.071586898

How to Cite
Torres, L., Hernández Acevedo, G. Y., Barrera, A., Ospina, S., & Prada, R. (2015). 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. Colombia Medica, 46(3), 150–153. https://doi.org/10.25100/cm.v46i3.1868
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Received 2015-01-23
Accepted 2015-09-23
Published 2015-09-30
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