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

O. Lorenzo-Betancor, K. Ogaki, A. I. Soto-Ortolaza, C. Labbe, R. L. Walton, A. J. Strongosky, Jay A Van Gerpen, R. J. Uitti, Pamela J McLean, Wolfdieter Springer, J. Siuda, G. Opala, A. Krygowska-Wajs, M. Barcikowska, K. Czyzewski, A. Mccarthy, T. Lynch, A. Puschmann, I. Rektorova, Y. SanotskyC. Vilariño-Güell, M. J. Farrer, Tanis Jill Ferman, Bradley F Boeve, Ronald Carl Petersen, Joseph E Parisi, Neill R Graff Radford, Dennis W Dickson, Zbigniew K Wszolek, Owen A Ross

Research output: Contribution to journalArticle

13 Scopus citations

Abstract

Background: Recently, a novel mutation in exon 24 of DNAJC13 gene (p.Asn855Ser, rs387907571) has been reported to cause autosomal dominant Parkinson's disease (PD) in a multi-incident Mennonite family. Methods: In the present study the mutation containing exon of the DNAJC13 gene has been sequenced in a Caucasian series consisting of 1938 patients with clinical PD and 838 with pathologically diagnosed Lewy body disease (LBD). Results: Our sequence analysis did not identify any coding variants in exon 24 of DNAJC13. Two previously described variants in intron 23 (rs200204728 and rs2369796) were observed. Conclusion: 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.

Original languageEnglish (US)
Pages (from-to)1323-1325
Number of pages3
JournalEuropean Journal of Neurology
Volume22
Issue number9
DOIs
StatePublished - Sep 1 2015

Keywords

  • DNAJC13
  • Genetics
  • Lewy body disease
  • Parkinson's disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

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    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., ... Ross, O. A. (2015). DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients. European Journal of Neurology, 22(9), 1323-1325. https://doi.org/10.1111/ene.12770