Which gene mutations are responsible for Tuberous Sclerosis?

Tuberous Sclerosis is primarily associated with mutations in the TSC1 and TSC2 genes. These genes are responsible for encoding proteins that are part of the mTOR signaling pathway, which plays a crucial role in cell growth, proliferation, and survival. Mutations in TSC1, which encodes hamartin, and TSC2, which encodes tuberin, lead to the formation of benign tumors in various organs, including the brain, skin, kidneys, and heart. This condition is characterized by a variety of symptoms, including seizures, developmental delays, and skin abnormalities.

In contrast, the other gene options mentioned are associated with different genetic disorders. For instance, POMT1 and POMT2 are linked to muscular dystrophies, NF1 and NF2 pertain to neurofibromatosis types 1 and 2, respectively, and ATP7B and PANK2 mutations are involved in Wilson's disease and PANK2-related disorders, respectively. These associations highlight the specificity of TSC1 and TSC2 mutations to Tuberous Sclerosis, making them the correct answer to the question posed.