Mutation analysis of PARK2 in a Uyghur family with early-onset Parkinson's disease in Xinjiang, China

Abstract Background The PARK2 gene was recently identified as a causative gene for autosomal recessive early-onset Parkinson's disease (EOPD). Studies on how specific PARK2 mutations are manifested on different genetic backgrounds may benefit prognosis and clinical management. Until now, there have been no reports of PARK2 mutations in a Uyghur family with EOPD. Methods We identified a large Uyghur EOPD family with PARK2 mutations, and analyzed genealogical, clinical, and genetic data from the family. Results Three of 15 members were diagnosed with EOPD, and two point mutations, c.951G>C (p.G284R) and c.924C>T (p.R275W), were found in six family members. Among the mutation-positive members, the three affected members were compound heterozygote, while the three unaffected members were single heterozygote. Conclusion This is the first report describing a Uyghur family with PARK2 mutations. The compound heterozygous mutation c.951G>C (p.G284R) and c.924C>T (p.R275W) is the pathogenic factor in this EOPD Uyghur family.