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 Médica

Guaberto Yesid Hernández Acevedo²  Rolando Prada³  Sandra Ospina⁴  Alejandro Barrera¹  Lilian Torres² 

[1]Fundación Universitaria de Ciencias de la Salud. Bogota, Colombia

[2]Fundación Universitaria de Ciencias de la Salud. Bogota, Colomb

[3]Fundación Universitaria de Ciencias de la Salud. Hospital Infantil Universitario de San José. Bogota, Colomb

[4]SaludCoop, Universidad del Rosario, Bogotá, Colombia

关键词: Craniosynostosis;    Apert syndrome;    Cleft palate;    Mutation;    Intron;    FGFR2 gene.;   

DOI  :  

学科分类：医学（综合）

来源: Universidad del Valle * Facultad de Salud / Universidad del Valle, Faculty of Health

【 摘 要 】

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 function

【 授权许可】

Unknown