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PARK11 gene (GIGYF2) variants Asn56Ser and Asn457Thr are not pathogenic for Parkinson's disease |
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| Authors: | Alexander Zimprich Claudia Schulte Eva Reinthaler Dietrich Haubenberger Jörg Balzar Peter Lichtner Salwa El Tawil S Edris Thomas Foki Walter Pirker Regina Katzenschlager Gerhard Daniel Thomas Brücke Eduard Auff Thomas Gasser |
| Institution: | 1. Department of Clinical Neurology, Medical University of Vienna, Vienna, Austria;2. Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany;3. Institute of Human Genetics, GSF National Research Centre for Environment and Health, Neuherberg, Germany;4. Department of Neurology, Ain Shams University, Cairo, Egypt;5. Department of Molecular Biology, Ain Shams University, Cairo, Egypt;6. Department of Neurology, SMZ-Ost Donauspital, Vienna, Austria;7. Department of Neurology, Wilhelminenspital, Vienna, Austria;1. Faculty of Medical and Human Sciences, Institute of Brain, Behaviour and Mental Health, University of Manchester, Manchester, UK;2. Institute of Brain, Behaviour and Mental Health, Salford Royal Hospital NHS Foundation Trust, Salford, UK;1. University of Turku and Turku University Hospital, Division of Clinical Neurosciences, Turku, Finland;2. University of Oulu and Oulu University Hospital, Department of Clinical Medicine, Neurology, Medical Research Center Oulu, Oulu, Finland |
| Abstract: | The GIGYF2 (Grb10-Interacting GYF Protein-2) gene has recently been proposed to be the responsible gene for the PARK11 locus. Ten different putative pathogenic variants were identified in cohorts of Parkinson's disease (PD) patients from Italy and France. Among these variants Asn56Ser and Asn457Thr were found repeatedly. In the present study we screened 669 PD patients (predominantly of central European origin) and 1051 control individuals for the presence of these two variants. Asn56Ser was found in one patient with a positive family history of the disease and in one control individual. The affected sister of the patient did not carry this variant. Asn457Thr was found in one patient, who was exceptional for his Egyptian origin and in three control individuals. This variant was not found in 50 control individuals from Egypt. We conclude that neither of these two variants plays a major role in the pathogenesis of PD in our study population. |
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