DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients. (September 2015)

• Record Type: Journal Article
• Authors: Lorenzo‐Betancor, O.; Ogaki, K.; Soto‐Ortolaza, A. I.; Labbe, C.; Walton, R. L.; Strongosky, A. J.; van Gerpen, J. A.; Uitti, R. J.; McLean, P. J.; Springer, W.; Siuda, J.; Opala, G.; Krygowska‐Wajs, A.; Barcikowska, M.; Czyzewski, K.; McCarthy, A.; Lynch, T.; Puschmann, A.; Rektorova, I.; Sanotsky, Y.; Vilariño‐Güell, C.; Farrer, M. J.; Ferman, T. J.; Boeve, B. F.; Petersen, R. C.; Parisi, J. E.; Graff‐Radford, N. R.; Dickson, D. W.; Wszolek, Z. K.; Ross, O. A.
• Is Part Of: European journal of neurology. Volume 22:Number 9(2015:Sep.)
• Page Start: 1323
• Page End: 1325
• Publication Date: 2015-09
• Subjects: Neurology -- Periodicals; Nervous system -- Diseases -- Periodicals; 616.8
• DOI: 10.1111/ene.12770
• Languages: English
• ISSNs: 1351-5101

Abstract

<abstract abstract-type="main" id="ene12770-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ene12770-sec-0001" sec-type="section"> <title>Background</title> <p>Recently, a novel mutation in exon 24 of <italic>DNAJC13</italic> gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson's disease (PD) in a multi‐incident Mennonite family.</p> </sec> <sec id="ene12770-sec-0002" sec-type="section"> <title>Methods</title> <p>In the present study the mutation containing exon of the <italic>DNAJC13</italic> gene has been sequenced in a Caucasian series consisting of 1938 patients with clinical PD and 838 with pathologically diagnosed Lewy body disease (LBD).</p> </sec> <sec id="ene12770-sec-0003" sec-type="section"> <title>Results</title> <p>Our sequence analysis did not identify any coding variants in exon 24 of <italic>DNAJC13</italic>. Two previously described variants in intron 23 (rs200204728 and rs2369796) were observed.</p> </sec> <sec id="ene12770-sec-0004" sec-type="section"> <title>Conclusion</title> <p>Our results indicate that the region surrounding the DNAJC13 p.Asn855Ser substitution is highly conserved and mutations in this exon are not a common cause of PD or LBD among Caucasian populations.</p> </sec> </abstract>