Therefore, in order to improve our knowledge of this disease and to spread the use of innovative and highly sensitive molecular techniques such as MLPA and NGS for the diagnosis of TSC in countries where the disease has been under-studied, we used a combined molecular strategy to analyze the mutational spectrum of TSC1 and TSC2 and the principal clinical features of 66 Mexican-descent unrelated cases of TSC. The gene discussed is TSC2; the disease is tuberous sclerosis.