Genetic analysis of NUS1 in Chinese patients with Parkinson’s disease

Abstract Recently, a mutation in NUS1 has been reported to be associated with Parkinson’s disease (PD) in a Chinese population. To further investigate the relationship between NUS1 and sporadic PD, We sequenced all exons and exon-intron boundaries of NUS1 in Chinese Han population including 494 PD patients and 478 healthy control individuals. As a result, we did not find the pathogenic mutation of NUS1 in PD patients. However, we detect 9 exonic variants including 4 synonymous variants, and 5 nonsynonymous variants. Pathogenicity predictions indicated that two novel nonsynonymous variants (c.432T>G, c.86G>C) may be deleterious. All variants showed no significant association with sporadic PD. These results suggested that NUS1 mutation may not be a common genetic factor for Chinese sporadic PD patients.