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Análisis genotípico de 11 pacientes colombianos son síndrome de Apert
Genotypic analysis of 11 Colombian Apert syndrome patients
Palabras clave:
Síndrome Apert, Colombia, S252W, P253R (es)Apert Syndrome, Colombia, FGFR2, S252W, P253R (en)
Antecedentes. El síndrome de Apert (SA) es una de las craneosinostosis sindrómicas más severas que afecta el neuro y viscerocraneo y además presenta alteraciones multisistémicas con repercusiones en aspectos físicos (aspecto general y talla baja), sensoriales (hipoacusia y trastornos visuales), cognoscitivos (retardo mental o trastornos del aprendizaje) y de inclusión laboral (sindactilia severa en manos y pies). Su etiología es la mutación del receptor 2 del factor de crecimiento fibroblástico (FGFR2) y se hereda de forma autosómica dominante.
Materiales y métodos. Se analizaron clínica y molecularmente 11 pacientes con sospecha de SA. Se realizó estudio mutacional mediante RFLP para el gen FGFR2.
Resultados. Se confirmaron molecularmente los 11 pacientes con SA, cuyas edades oscilaron desde los 0 a 32 años. Todos los pacientes presentaron el fenotipo clásico. Se encontró un 63.6% de pacientes con la mutación S252W y 36.4% con P253R.
Discusión. De los pacientes analizados, llamo la atención la presencia de talla baja y RM/RGD en algunos de ellos. Desde el punto de vista genotípico, las frecuencias mutacionales para S252W y P253R no mostraron diferencias con relación a lo reportado mundialmente. Aunque no se disponen de datos de la incidencia de esta patología a nivel local, este estudio podría ser el primer acercamiento para fines epidemiológicos en Colombia.
Background. Apert Syndrome (AS) is one of the most severe syndromic craniosynostosis affecting neuro and viscerocranium and presenting with multisystemic anomalies altering physical aspects (general looks and short stature), sensorineural aspects (deafness and visual problems), cognitive development (mental retardation or trouble learning) and work inclusion (severe syndactyly in hands and feet). Its aetiology relies on mutation of the Fibroblast Growth Factor Receptor type 2 (FGFR2) gene, inherited by an autosomal dominant path.
Materials and methods. 11 patients with suspicion of AS were clinically evaluated and molecularly tested for mutations in FGFR2 by RFLP.
Results. Patients with AS from 0 to 32 years old were analized for mutations in FGFR2 gene. All of them had the classical phenotype of the disease. 63.6% of the patients had the S252W mutation while 36.4% had the P253R mutation.
Discussion. Of all patients enrolled in this study it is notwworthy that some of them had short stature, while others had mental retardation or global development delay. Mutational frequencies for S252W and P253R did not show difference according to what has been reported worldwide. Although there is no data about the incidence of this disease locally, this study could be a first approach to its epidemiology in Colombia.
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