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