Molecular characteristics

Severe mutation in a gene expressed in the brain and kidneys in rat leads to the disease. This gene is called RUSC2 gene. It plays an important role in the brain development. The type of mutation and location will govern the severity of the disease. The mutations would impair RUSC2 function and disrupt intracellular trafficking and synaptic vesicular transport, resulting in impaired synaptogenesis, neuronal dysfunction, and intellectual disability.