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 Citations (Scopus)

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

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Lewy Body Disease
Parkinson Disease
Exons
Mutation
Introns
Genes
Sequence Analysis
Population

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients. / Lorenzo-Betancor, O.; Ogaki, K.; Soto-Ortolaza, A. I.; Labbe, C.; Walton, R. L.; Strongosky, A. J.; Van Gerpen, Jay A; Uitti, R. J.; McLean, Pamela J; Springer, Wolfdieter; 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, Tanis Jill; Boeve, Bradley F; Petersen, Ronald Carl; Parisi, Joseph E; Graff Radford, Neill R; Dickson, Dennis W; Wszolek, Zbigniew K; Ross, Owen A.

In: European Journal of Neurology, Vol. 22, No. 9, 01.09.2015, p. 1323-1325.

Research output: Contribution to journalArticle

Lorenzo-Betancor, O, Ogaki, K, Soto-Ortolaza, AI, Labbe, C, Walton, RL, Strongosky, AJ, Van Gerpen, JA, Uitti, RJ, McLean, PJ, 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, MJ, Ferman, TJ, Boeve, BF, Petersen, RC, Parisi, JE, Graff Radford, NR, Dickson, DW, Wszolek, ZK & Ross, OA 2015, 'DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients', European Journal of Neurology, vol. 22, no. 9, pp. 1323-1325. https://doi.org/10.1111/ene.12770
Lorenzo-Betancor O, Ogaki K, Soto-Ortolaza AI, Labbe C, Walton RL, Strongosky AJ et al. DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients. European Journal of Neurology. 2015 Sep 1;22(9):1323-1325. https://doi.org/10.1111/ene.12770
Lorenzo-Betancor, O. ; Ogaki, K. ; Soto-Ortolaza, A. I. ; Labbe, C. ; Walton, R. L. ; Strongosky, A. J. ; Van Gerpen, Jay A ; Uitti, R. J. ; McLean, Pamela J ; Springer, Wolfdieter ; 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, Tanis Jill ; Boeve, Bradley F ; Petersen, Ronald Carl ; Parisi, Joseph E ; Graff Radford, Neill R ; Dickson, Dennis W ; Wszolek, Zbigniew K ; Ross, Owen A. / DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients. In: European Journal of Neurology. 2015 ; Vol. 22, No. 9. pp. 1323-1325.
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T1 - DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients

AU - Lorenzo-Betancor, O.

AU - Ogaki, K.

AU - Soto-Ortolaza, A. I.

AU - Labbe, C.

AU - Walton, R. L.

AU - Strongosky, A. J.

AU - Van Gerpen, Jay A

AU - Uitti, R. J.

AU - McLean, Pamela J

AU - Springer, Wolfdieter

AU - Siuda, J.

AU - Opala, G.

AU - Krygowska-Wajs, A.

AU - Barcikowska, M.

AU - Czyzewski, K.

AU - Mccarthy, A.

AU - Lynch, T.

AU - Puschmann, A.

AU - Rektorova, I.

AU - Sanotsky, Y.

AU - Vilariño-Güell, C.

AU - Farrer, M. J.

AU - Ferman, Tanis Jill

AU - Boeve, Bradley F

AU - Petersen, Ronald Carl

AU - Parisi, Joseph E

AU - Graff Radford, Neill R

AU - Dickson, Dennis W

AU - Wszolek, Zbigniew K

AU - Ross, Owen A

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N2 - 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.

AB - 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.

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