Two novel mutations in the TSC2 gene causing severe phenotype in nervous system and skin in a patient with tuberous sclerosis complex

Tuberous sclerosis complex (TSC1, OMIM 191100 and TSC2 OMIM 613254) is an autosomal dominant neurocutaneous disorder that affects multiple organs, associated with the development of wide spread hamartomatous lesions including brain, eyes, lungs, heart, liver, kidneys and skin. Mutations in the tumor suppressor genes, TSC1 at 9q34 and TSC2 at 16p13.3, which encode the proteins hamartin and tuberin respectively, detected in approximately 85-90% of the cases. The majority of cases occur sporadically, with a family history found in only 30% of patients.

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