Abstract
Tuberous sclerosis complex is an autosomal-dominant, neurocutaneous, multisystem disorder characterized by cellular hyperplasia and tissue dysplasia. The genetic cause is mutations in the TSC1 gene, found on chromosome 9q34, and TSC2 gene, found on chromosome 16p13. The clinical phenotypes resulting from mutations in either of the 2 genes are variable in each individual. Herein, advances in the understanding of molecular mechanisms in tuberous sclerosis complex are reviewed, and current guidelines for diagnosis, treatment, follow-up, and management are summarized.
Keywords:
Autism; Epilepsy; Mechanistic target of rapamycin (mTOR); Neurocutaneous; Neurogenetic; Rapamycin; Subependymal giant cell astrocytoma; Tuberous sclerosis complex.
Published by Elsevier Inc.
Publication types
-
Research Support, N.I.H., Extramural
-
Research Support, Non-U.S. Gov't
-
Research Support, U.S. Gov't, Non-P.H.S.
-
Review
MeSH terms
-
Child
-
Chromosomes, Human, Pair 16
-
Chromosomes, Human, Pair 9
-
Genotype
-
Humans
-
Mechanistic Target of Rapamycin Complex 1
-
Molecular Targeted Therapy
-
Multiprotein Complexes / antagonists & inhibitors
-
Mutation
-
Phenotype
-
TOR Serine-Threonine Kinases / antagonists & inhibitors
-
Tuberous Sclerosis / diagnosis
-
Tuberous Sclerosis / drug therapy
-
Tuberous Sclerosis / genetics*
-
Tuberous Sclerosis Complex 1 Protein
-
Tuberous Sclerosis Complex 2 Protein
-
Tumor Suppressor Proteins / genetics
Substances
-
Multiprotein Complexes
-
TSC1 protein, human
-
TSC2 protein, human
-
Tuberous Sclerosis Complex 1 Protein
-
Tuberous Sclerosis Complex 2 Protein
-
Tumor Suppressor Proteins
-
Mechanistic Target of Rapamycin Complex 1
-
TOR Serine-Threonine Kinases