Молекулярная диагностика туберозного склероза

Григорий Аркадьевич Янус; Евгений Николаевич Суспицын; Марина Юрьевна Дорофеева; Евгений Наумович Имянитов

MOLECULAR DIAGNOSTICS OF TUBEROUS SCLEROSIS

Grigoriy Arkadyevich Yanus Saint-Petersburg State Pediatric Medical University
Yevgeniy Nikolayevic Suspitsyn Saint-Petersburg State Pediatric Medical University
Marina Yuryevna Dorofeyeva Moscow Institute of Pediatrics and Pediatric Surgery
Yevgeniy Naumovich Imyanitov Saint-Petersburg State Pediatric Medical University

Abstract

Tuberous sclerosis is a hereditary disease of phakomatoses group, characterized by the development of multiple hamartomas of brain, eyes, skin and visceral organs. Diagnostics of tuberous sclerosis requires identification of pathogenic mutations within TSC1 or TSC2 genes. Here we present a description of clinical case of tuberous sclerosis followed by detection of the causative mutation.