Tuberous sclerosis complex (TSC) is an autosomal dominant multi-systemic disorder characterized by systemic hamartomas. Two-thirds of cases are sporadic, and new mutations may be involved in the cases. TSC exhibits locus heterogeneity. Two genes responsible for this disease,
TSC1 and
TSC2, have been identified, and both of them are speculated to be tumor suppressor genes.
TSC1 is located on chromosome 9q34 and encodes hamartin.
TSC2 is located on 16pl3.3 and encodes tuberin. Although hamartin and tuberin are entirely different from each other, TSCl and TSC2 phenotypes have been considered identical. More than 300 mutations of
TSC1 and
TSC2 have been reported, and more details of characteristics of
TSC1 and
TSC2 have been elucidated.
Here we report one novel case of TSCl. The patient was a 3-year-old male and had typical tuberous sclerosis symptoms such as seizures, multiple white macules and shagreen patches. Brain MRI demonstrated many cortical tubers and a subependymal nodule. According to the diagnostic criteria for TSC, this case was confirmed to be definite TSC. Genetic investigation of the patient confirmed 2 bp deletion (2110-2111del TA) in exon 17 of TSCl, which has neve1·been reported in TSCl patients.
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