Based on the Human Gene Mutation Database, a total of 51 likely pathogenic or pathogenic mutations of NUS1 have been found, of which 20 mutations are associated with Parkinson's disease, 7 mutations are associated with congenital disorder of glycosylation, 2 mutations are associated with dystonia, and the remaining 22 mutations are mainly related to the symptoms of MRD55, such as intellectual disability, developmental delay, and seizures. The gene discussed is NUS1; the disease is Dystonia.