RESUMEN

BACKGROUND: The presumptive prenatal diagnosis of tuberous sclerosis (TSC) previously depended upon fetal imaging. Cloning of the two TSC genes (TSC1 and TSC2) now enables precise molecular diagnosis by gene sequencing. We used this approach for the prenatal diagnosis of a fetus showing multiple intracardiac tumors. METHODS: DNA extracted from cultivated amniotic fluid cells underwent sequencing of all coding regions and exon-intron boundaries of the TSC1 and TSC2 genes. RESULTS: A mutation (R611Q) was found in exon 16 of the TSC2 gene. Thus far, neither clinically unaffected parents has provided blood samples for mutation analysis. CONCLUSION: For the first time, mutation analysis of a TSC gene enabled a precise prenatal diagnosis.

Asunto(s)

Diagnóstico Prenatal , Esclerosis Tuberosa/diagnóstico , Adulto , Amniocentesis , Diagnóstico Diferencial , Femenino , Genes Supresores de Tumor , Humanos , Recién Nacido , Mutación , Embarazo , Segundo Trimestre del Embarazo , Esclerosis Tuberosa/diagnóstico por imagen , Esclerosis Tuberosa/embriología , Proteína 2 del Complejo de la Esclerosis Tuberosa , Proteínas Supresoras de Tumor/genética , Ultrasonografía