Abstract
We describe three cases in whom identification of a disease-causing mutation in the TSC1 or TSC2 gene preceded the appearance or detection of symptoms sufficient for a clinical diagnosis of tuberous sclerosis complex (TSC). We suggest that genetic testing be given a more prominent role in the evaluation of individuals with a family history of TSC or symptoms suggestive of TSC and propose that diagnostic criteria be revised to include genetic testing.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Aged
-
Child
-
Child, Preschool
-
DNA Mutational Analysis*
-
Female
-
Humans
-
Male
-
Retrospective Studies
-
Tuberous Sclerosis / diagnosis*
-
Tuberous Sclerosis / pathology
-
Tuberous Sclerosis Complex 1 Protein
-
Tuberous Sclerosis Complex 2 Protein
-
Tumor Suppressor Proteins / genetics
Substances
-
TSC1 protein, human
-
TSC2 protein, human
-
Tuberous Sclerosis Complex 1 Protein
-
Tuberous Sclerosis Complex 2 Protein
-
Tumor Suppressor Proteins