{"title":"Review of Tuberous Sclerosis Complex: A Single Center Experience","authors":"A. Tosun, Beste Kıpçak Yüzbaşı, A. Akyol","doi":"10.4274/JPR.GALENOS.2020.47750","DOIUrl":null,"url":null,"abstract":"Introduction Tuberous sclerosis complex (TSC) is an autosomal dominant inherited genetic disease in which multiple organ involvement is characterized by common hamartomas in many organs especially including the brain, skin, heart, eye, kidney, lung and liver. TSC is due to programmed hyperplasia of ectodermal and mesodermal cells, which is characterized by epilepsy, adenoma sebaceum and mental retardation. It has a variable age of onset and variable clinical severity. About 2/3 of these cases are formed via spontaneous mutation. Due to mutations in the TSC1 (9q34) and TSC2 (16p13.3) genes respectively, the functions of the hamartin and tuberin proteins encoded by these genes are impaired. The mammalian target of hamartin-tuberin proteins is to","PeriodicalId":42409,"journal":{"name":"Journal of Pediatric Research","volume":"8 1","pages":"75-81"},"PeriodicalIF":0.4000,"publicationDate":"2021-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"1","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Pediatric Research","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4274/JPR.GALENOS.2020.47750","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 1
Abstract
Introduction Tuberous sclerosis complex (TSC) is an autosomal dominant inherited genetic disease in which multiple organ involvement is characterized by common hamartomas in many organs especially including the brain, skin, heart, eye, kidney, lung and liver. TSC is due to programmed hyperplasia of ectodermal and mesodermal cells, which is characterized by epilepsy, adenoma sebaceum and mental retardation. It has a variable age of onset and variable clinical severity. About 2/3 of these cases are formed via spontaneous mutation. Due to mutations in the TSC1 (9q34) and TSC2 (16p13.3) genes respectively, the functions of the hamartin and tuberin proteins encoded by these genes are impaired. The mammalian target of hamartin-tuberin proteins is to
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