title: [From gene to disease; TSC1 and TSC2 genes and tuberous sclerosis complex].
abstract: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the presence of multiple hamartomas in different parts of the body: the skin, central nervous system, retina, heart, and kidneys. The diagnosis is based on clinical criteria. Screening for TSC must include investigation of skin, CT-scan of the brain and retinal examination. Mutations in TSC patients are present in either the TSC1 or the TSC2 gene. Due to the complexity of the genes and the observation that almost each family has a unique mutation, DNA analysis is not suitable for fast diagnosis of the index patient, but may be used for testing relatives at risk.
authors.affiliation: Nederlands Kanker Instituut/Antoni van Leeuwenhoek Ziekenhuis, polikliniek Familiaire Tumoren, Amsterdam.
authors.forename: S
authors.initials: S
authors.lastname: Verhoef
authors.forename: D
authors.initials: D
authors.lastname: Lindhout
authors.forename: D J
authors.initials: DJ
authors.lastname: Halley
authors.forename: A M
authors.initials: AM
authors.lastname: van den Ouweland
mesh_terms: D003937:Diagnosis, Differential; D005820:Genetic Testing; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000235:genetics; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
chemical_list: D011506:Proteins; D012097:Repressor Proteins; C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins