Open AccessTuberous sclerosis in the Republic of Sakha (Yakutia)
Author(s) -
В.М. Софронова,
Д.А. Петухова,
А. Л. Сухомясова,
Nadezhda Maksimova
Publication year - 2020
Publication title -
medicinskaâ genetika
Language(s) - English
Resource type - Journals
ISSN - 2073-7998
DOI - 10.25557/2073-7998.2020.08.24-26
Subject(s) - tsc1 , tuberous sclerosis , tsc2 , genetics , gene , biology , medicine , pathology , pi3k/akt/mtor pathway , apoptosis
Проведен ретроспективный клинико-генеалогический анализ 20 пациентов с диагнозом туберозный склероз. По результатам молекулярно-генетической диагностики в 3 неродственных якутских и 1 русской семьях выявлены 4 разных патогенных варианта нуклеотидной последовательности в генах TSC1, TSC2. A retrospective clinical and genealogical analysis of 20 patients with a diagnosis of tuberous sclerosis was performed. According to the results of molecular genetics diagnostics, 4 different pathogenic variants of the nucleotide sequence in the TSC1, TSC2 genes were identified in 3 unrelated Yakut and 1 Russian family.