DNAJC13 mutation screening in patients with Parkinson's disease from South Italy. (October 2018)

• Record Type: Journal Article
• Authors: Gagliardi, Monica; Annesi, Grazia; Procopio, Radha; Morelli, Maurizio; Iannello, Grazia; Bonapace, Giuseppe; Mancini, Manuela; Nicoletti, Giuseppe; Quattrone, Aldo
• Is Part Of: Parkinsonism & related disorders. Volume 55(2018)
• Page Start: 134
• Page End: 137
• Publication Date: 2018-10
• Subjects: DNAJC13 -- Parkinson's disease -- Autosomal dominant form; Parkinson's disease -- Periodicals; Movement disorders -- Periodicals; Movement Disorders -- Periodicals; Nerve Degeneration -- Periodicals; Nervous System Diseases -- Periodicals; Parkinson Disease -- Periodicals; Tremor -- Periodicals; Parkinson, Maladie de -- Périodiques; Parkinson's disease; 616.833
• DOI: 10.1016/j.parkreldis.2018.06.004
• Languages: English
• ISSNs: 1353-8020

Abstract

Abstract: Background: Parkinson's disease (PD) is the second most common neurodegenerative disorder, and the most common neurodegenerative form of parkinsonism. Recently, a pathogenic mutation (p.N855S) in DNAJC13 was linked to autosomal dominant Lewy body PD in a Dutch–German–Russian Mennonite multi-incident kindred, and was found in five additional patients. In this study, we performed a comprehensive screening of the DNAJC13 gene in familial PD and sporadic PD to assess the frequency of known and novel rare nonsynonymous variants. Methods: We screened 563 sporadic and 168 familial PD patients and a control series (n = 1000) for the coding region of DNAJC13 . Results: Our sequencing analysis identified two carriers of the c.2708G > A (p.R903K) variant in exon 24 of DNAJC13 . One of these carriers is a familial PD. Conclusion: The p. R903K variant was not found in 1000 healthy controls and it is localized in a functional domain of the DNAJC13 protein. Further studies are necessary to evaluate the role of DNAJC13 variants in PD. Highlights: We screened 563 sporadic and 168 familial PD patients for variants in the DNAJC13 gene. We identified p. R903K variant in DNAJC13 gene in two patients from southern Italy. The p. R903K was not found in 1000 healthy controls.