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
Introduction:Apert syndrome (AS) is a craniosynostosis conditioncaused by mutations in the Fibroblast Growth Factor Receptor 2(FGFR2) gene. Clinical features include cutaneous and osseoussymmetric syndactily in hands and feet, with variable presentations inbones, brain, skin and other internal organs.Methods:Members of two families with an index case of ApertSyndrome were assessed to describe relevant clinical features andmolecular analysis (sequencing and amplification) of exons 8, 9 and10 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 asingle FGFR2 mutation, S252W, in the sequence of exon 8. Althoughmutations were not found in the study of the patient affected with cleftlip and palate, it is known that these diseases share signaling pathways,allowing suspected alterations in shared genes. In the patient of family2, we found a sequence variant T78.501A located near the splicingsite, which could interfere in this process, and consequently with theprotein functionAuthors
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Keywords
- Craniosynostosis
- Apert syndrome
- Cleft palate
- Mutation
- Intron
- FGFR2 gene.
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