R135C

R135C is a mutation in the TSC2 gene, which is located on chromosome 18. This mutation is associated with Tuberous Sclerosis Complex (TSC), a genetic disorder characterized by the formation of benign tumors in multiple organs, including the brain, heart, kidneys, skin, and lungs. TSC is an autosomal dominant condition, meaning that a person needs to inherit only one copy of the mutated gene from a parent to develop the disorder.

The R135C mutation specifically affects the TSC2 protein, which is a tumor suppressor protein. The TSC2 protein helps regulate the mammalian target of rapamycin (mTOR) pathway, which is involved in cell growth and proliferation. The R135C mutation leads to a truncated and non-functional TSC2 protein, resulting in the dysregulation of the mTOR pathway and subsequent uncontrolled cell growth.

Individuals with the R135C mutation may exhibit a wide range of symptoms, including seizures, intellectual disability, and autism spectrum disorder. The severity of these symptoms can vary greatly among affected individuals. Early diagnosis and management of TSC, including regular medical check-ups, monitoring of tumor growth, and management of associated symptoms, are crucial for improving the quality of life for individuals with this condition.

Research is ongoing to better understand the genetic basis of TSC and to develop more effective treatments for individuals with this disorder. Genetic counseling is recommended for families with a history of TSC to help them understand the risk of passing the condition to future generations.