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[Analysis of a patient with early-onset Parkinson's disease and PARK7 gene variation].

OBJECTIVE
To explore the genetic basis of a patient with early-onset Parkinson disease from a consanguineous family.


METHODS
Homozygosity mapping and Sanger sequencing of cDNA were used to identify the causative mutation.


RESULTS
A homozygous missense variation (c.56C>G, p.Thr19Arg) in the PARK7 gene was identified in the patient. In silico analysis suggested the c.56C>G variation to be pathogenic.


CONCLUSION
Homozygous c.56C>G variation of the PARK7 gene was the disease-causing variation in this family.