No evidence for pathogenic role of GIGYF2 mutation in Parkinson disease in Japanese patients

Grb10-Interacting GYF Protein-2 (GIGYF2) is a candidate gene for PARK11 locus. To date, seven different GIGYF2 missense mutations have been identified in patients with familial Parkinson disease (PD) of European descent. To clarify the pathogenic role of GIGYF2 in PD, we analyzed the frequency of GIGYF2 mutations in 389 Japanese patients with PD (including 93 patients with late-onset familial PD, 276 with sporadic PD, and 20 with a single heterozygous mutation in the PD-associated genes), and 336 Japanese normal controls, by direct sequencing and/or high-resolution melting analysis. None of the reported GIGYF2 mutations or digenic mutations were detected. Two novel non-synonymous variants were identified (p.Q1211delQ and p.H1023Q), however, we could not determine their roles in PD. In summary, we found no evidence for PD-associated roles of GIGYF2 mutations. Our data suggest that GIGYF2 is unlikely to play a major role in PD in Japanese patients, similar to other populations.