Mutations in the Grb10-interacting GYF protein 2 (GIGYF2) gene, within the PARK11 locus, have been nominated as a cause of Parkinson's disease in Italian and French populations. By sequencing the whole GIGYF2 coding region in forty-six probands (thirty-seven Italians) with familial Parkinson's disease compatible with an autosomal dominant inheritance, we identified no mutations. Our data add to a growing body of evidence suggesting that GIGYF2 mutations are not a frequent cause of PD.

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doi.org/10.1016/j.parkreldis.2009.05.001, hdl.handle.net/1765/24490
Parkinsonism & Related Disorders
Erasmus MC: University Medical Center Rotterdam

Di Fonzo, A., Fabrizio, E., Thomas, A., Fincati, E., Marconi, R., Tinazzi, M., … Bonifati, V. (2009). GIGYF2 mutations are not a frequent cause of familial Parkinson's disease. Parkinsonism & Related Disorders, 15(9), 703–705. doi:10.1016/j.parkreldis.2009.05.001