Identificación de mutaciones puntuales del gen de la 21-hidroxilasa en pacientes afectados con hiperplasia suprarrenal congénita.

Abstract

Discussion. The most frequent mutations were similar to those observed in other countries, except for Q318X. Although its frequency was higher but similar to that observed in Latin American countries, it contrasted with those of other continents and indicated the possible influence of genetic background in its expression. Several of the mutations were associated with specific clinical forms related to the enzyme activity. In the milder forms of CAH, several alleles were detected. These were important because these patients can have children with the virilizing and salt wasting forms. Recognition of the allelic forms of CAH will permit more specific genetic counseling and prenatal diagnosis.

Caracterización de una cohorte de pacientes pediátricos con Hiperplasia Suprarrenal Congénita

“…La mutación más común encontrada fue c.844G > T (p.Val282Leu), que conserva 20-50% de la actividad enzimática, siendo una de las más frecuentes en variante no clásica 4 ya previamente reportada en pacientes colombianos 24 . La segunda mutación i2 splice (c.293-13C > G), describe actividad enzimática residual del 1% y se ha reportado con alta frecuencia en formas clásicas 25 .…”