TSC2 / PKD1 contiguous gene syndrome

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

“…The majority of cases occur sporadically, with a family history found in only 30% of patients. [1][2][3][4][5][6] The TSC2 gene comprises 42 exons and encodes for a guanosine triphosphatase-activating protein. 4,7 Large deletions or rearrangements are more frequent in TSC2 than in TSC1.…”

“…In conclusion, we have reported two novel mutations in TSC2 gene, one missense and another deletion, causing a severe form of tuberous sclerosis, in nervous system and skin of a young patient, expanding genotype and knowledge with regard to TSC as requested and recommended by TuberOus SClerosis (TOSCA) registry to increase disease Awareness. 9 F. Cammarata-Scalisi, 1, * C. Vidales Moreno, 2 F. Stock, 3 A. Avendaño, 1 D.…”