[Identification of two novel Parkin gene mutations in a patient affected with Juvenile Parkinson's syndrome].

Objective To explore the clinical and genetic features of a patient suspected with Juvenile Parkinson’s syndrome (JP). Methods The clinical features of the patient were analyzed. The DNA of the patient and his parents was extracted from peripheral blood samples and sequenced by exome capture sequencing. The nature and impact of detected mutations were predicted and validated. Results The patient displayed typical features including resting tremor, bradykinesia, rigidity, but with excellent response to low dose levodopa. DNA sequencing showed that she has carried compound heterozygous mutations of the Parkin gene, namely c. 1381dupC and c. 619-1G>C, which were respectively inherited from his mother and father. Neither mutation was reported previously. Bioinformatics predicted that both mutations are pathogenic. Conclusion The patient has suffered from JP caused by mutations of the Parkin gene. Exome capture sequencing is an accurate and efficient method for genetic diagnosis of such disease. Key words: Juvenile Parkinson’s syndrome; Next-generation sequencing; Parkin gene