Parkinson Disease and Complex Parkinsonism

Gene: GIGYF2

Red List (low evidence)

Monoallelic mutations originally identified in 4 families with PD, with incomplete penetrance (PMID:18358451). A number of studies failed to replicate this finding (large cohort studies both in familial and sporadic pd in both Caucasian and Japanese populations(PMID: 18923002, 19250854, 19279319, 19429085, 19482505, 20044296, 20685231). 19321232 in a Belgian PD population identified 3 sporadic PD patients carrying two novel mutations, but due the lack of segregation or functional data the authors say the mutations could be benign polymorohism. One study reported (26134514) 2 siblings with one novel variant (p.Arg610Gly). One chinese study (201788319) reports 9 variants in sporadic PD and not in 300 controls. Functional data on zebrafish embryos also do not support a role of GIGYF2 in dopaminergic neurons (20060621). Overall, these results do not support a major role of GIGYF2 in PD.

Created: 14 Dec 2016, 5:27 p.m.

Publications

• 18358451
• 18923002
• 19250854
• 19279319
• 19429085
• 19482505
• 20044296
• 20685231
• 19321232
• 26134514
• 201788319
• 20060621

Comment on list classification: Confirmed with Arianna to keep this red.

Created: 8 Dec 2016, 3:48 p.m.

Comment on list classification: Susceptibility gene, with refuted reports of pathogenicity and incomplete penetrance (see publications). Should remain red.

Created: 3 Nov 2016, 12:41 p.m.