Research paperD620N mutation in the VPS35 gene and R1205H mutation in the EIF4G1 gene are uncommon in the Greek population

•The first independent study for VPS35 D620N and EIF4G1 R1205H in Greece.•These mutations do not seem to be major causes of PD in the Greek population.•Frequency and pathogenicity of VPS35 and EIF4G1 mutations should be further studied.

Recently, vacuolar protein sorting 35 (VPS35) and eukaryotic translation initiation factor 4 gamma 1 (EIF4G1) have been identified as new causal Parkinson's disease (PD) genes, with the VPS35 D620N and EIF4G1 R1205H mutations being identified in both autosomal dominant late-onset familial and sporadic PD patients. However, the frequencies of these two mutations among different ethnic groups vary. We studied the VPS35 D620N and EIF4G1 R1205H mutations in a total of 333 individuals, 202 Greek patients with sporadic PD and 131 control subjects, using a polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. None of our studied individuals carried these two mutations. Our data support that the VPS35 D620N and EIF4G1 R1205H mutations are not a common cause of PD in the Greek population.