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GIGYF2 mutations are not a frequent cause of familial Parkinson's disease.

Italian Parkinson Genetics Network

Di Fonzo A., Fabrizio E., Thomas A., Fincati E., Marconi R., Tinazzi M., Breedveld G.J., Simons E.J., Chien H.F., Ferreira J.J., Horstink M.W., Abbruzzese G., Borroni B., Cossu G., Dalla Libera A., Fabbrini G., Guidi M., De Mari M., Lopiano L., Martignoni E., Marini P., Onofrj M., Padovani A., Stocchi F., Toni V., Sampaio C., Barbosa E.R., Meco G., Oostra B.A., Bonifati V.

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.

Parkinsonism Relat. Disord. 15:703-705(2009) [PubMed] [Europe PMC]

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