title: Molecular genetic advances in tuberous sclerosis.
abstract: Over the past decade, there has been considerable progress in understanding the molecular genetics of tuberous sclerosis, a disorder characterised by hamartomatous growths in numerous organs. We review this progress, from cloning and characterising TSC1 and TSC2, the genes responsible for the disorder, through to gaining insights into the functions of their protein products hamartin and tuberin, and the identification and engineering of animal models. We also present the first comprehensive compilation and analysis of all reported TSC1 and TSC2 mutations, consider their diagnostic implications and review genotype/phenotype relationships.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
authors.forename: J P
authors.initials: JP
authors.lastname: Cheadle
authors.forename: M P
authors.initials: MP
authors.lastname: Reeve
authors.forename: J R
authors.initials: JR
authors.lastname: Sampson
authors.forename: D J
authors.initials: DJ
authors.lastname: Kwiatkowski
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D004195:Disease Models, Animal; D006801:Humans; D009030:Mosaicism; D017354:Point Mutation; D011506:Proteins / Q000235:genetics* / Q000502:physiology; D012097:Repressor Proteins / Q000235:genetics* / Q000502:physiology; D017422:Sequence Analysis, DNA; D014402:Tuberous Sclerosis / 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