Caracterización clínica y molecular de individuos con el síndrome frágil X detectados por análisis inmunohistoquímico

Se realizo el estudio de 50 varones con retraso mental y/o autismo de etiologia desconocida a fin de detectar individuos afectados con el sindrome fragil X a traves del analisis inmunohistoquimico y caracterizarlos clinica y molecularmente. Entre los casos pesquisados se detectaron 3 individuos con baja expresion de la proteina relacionada con el sindrome, a quienes se les realizo la caracterizacion molecular. La correlacion inmunohistoquimica y molecular en 2 de ellos fue positiva. La no correlacion de un tercero sugiere que pudiera tratarse de una mutacion puntual o una delecion del gen relacionado con la enfermedad. En otro paciente con el fenotipo neuropsicologico y fisico caracteristicos de la enfermedad se observo una expresion promedio normal baja, lo que motivo la indicacion de la caracterizacion molecular, que resulto ser positiva. Se discuten los mecanismos geneticos y fisiopatologicos que pudieran explicar la presencia de la proteina en las celulas analizadas.(AU) 50 males with mental retardation and/or autism of unknown etiology were studied aimed at detecting individuals affected with the Fragile X syndrome by the immunohistochemical analysis and at characterizing them from the clinical and molecular point of view. Among the screneed subjects, 3 individuals with low expression of the protein related to the syndrome were detected. Molecular characterization was performed in these cases. The immunohistochemical and molecular correlation was positive in 2 of them. The non correlation of the third suggests that it may be a punctual mutation or a deletion of the gene connected with the disease. In another patient with the neuropsychological and physical phenotype characteristic of the disease, it was observed an average normal low expression that led to the indication of the molecular characterization, which proved to be positive. The genetic and physiopathological mechanisms that could explain the presence of the protein in the analyzed cells are discussed.(AU)