Analysis of a patient with early-onset Parkinson’s disease and PARK7 gene variation / 中华医学遗传学杂志

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.