A new F-box protein 7 gene mutation causing typical Parkinson's disease

Background Recessive mutations in the F‐box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian‐pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations. Methods Whole exome and targeted Sanger sequencing were per...

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Bibliographic Details
Published in:	Movement disorders Vol. 30; no. 8; pp. 1130 - 1133
Main Authors:	Lohmann, Ebba, Coquel, Anne-Sophie, Honoré, Aurélie, Gurvit, Hakan, Hanagasi, Hasmet, Emre, Murat, Leutenegger, Anne L., Drouet, Valérie, Sahbatou, Mourad, Guven, Gamze, Erginel-Unaltuna, Nihan, Deleuze, Jean-Francois, Lesage, Suzanne, Brice, Alexis
Format:	Journal Article
Language:	English
Published:	United States Blackwell Publishing Ltd 01-07-2015 Wiley Subscription Services, Inc Wiley
Subjects:	Aged, 80 and over autosomal-recessive Consanguinity F-Box Proteins - genetics FBXO7 gene Female Humans Life Sciences Male Middle Aged Movement disorders Mutation Neurobiology Neurons and Cognition Parkinson disease Parkinson Disease - genetics Parkinson Disease - physiopathology Pedigree phenotype Turkey Turkey phenotype Parkinson disease FBXO7 gene autosomal-recessive Turkey autoso-mal-recessive
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Summary:	Background Recessive mutations in the F‐box protein 7 gene (FBXO7; PARK15) have been identified as a cause of the parkinsonian‐pyramidal syndrome. Here, we report clinical and genetic findings in a Turkish family with novel FBXO7 mutations. Methods Whole exome and targeted Sanger sequencing were performed for genetic analysis in a family with two members affected by Parkinson's disease (PD). All family members underwent detailed clinical, mental, and neurological examination. Results The new p.L34R (c.101 T>G) FBXO7 mutation was detected in a homozygous state in two Turkish sibs with typical levodopa‐responsive PD. Conclusion This is the first time a FBXO7 mutation has been identified that causes a phenotype compatible with typical idiopathic PD and presents with some of its common nonmotor features, such as rapid eye movement sleep behavior disorder, depression, and anxiety. © 2015 International Parkinson and Movement Disorder Society
Bibliography:	ark:/67375/WNG-2R3K78V0-G Eranet Neuron - No. (R08200DS) istex:9E4F65C7C39B2760767CD40167FC1492D6419EAE ArticleID:MDS26266 France-Parkinson Association and the French program "Investissements d'avenir" - No. (ANR-10-IAIHU-06) Full financial disclosures and author roles may be found in the online version of this article. Nothing to report. This work was funded by Eranet Neuron (R08200DS) France‐Parkinson Association and the French program “Investissements d'avenir” funding (ANR‐10‐IAIHU‐06). Relevant conflicts of interest/financial disclosures Funding agencies ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	0885-3185 1531-8257
DOI:	10.1002/mds.26266