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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

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.
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