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; J. A. van Gerpen; R. J. Uitti; P. J. Mclean; W. Springer; J. Siuda; G. Opala; A. Krygowska-Wajs; M. Barcikowska; K. Czyzewski; A. Mccarthy; T. Lynch; A. Puschmann; I. Rektorova; Y. Sanotsky; C. Vilariño-Güell; M. J. Farrer; T. J. Ferman; B. F. Boeve; R. C. Petersen; J. E. Parisi; N. R. Graff-Radford; D. W. Dickson; Z. K. Wszolek; O. A. Ross

doi:10.1111/ene.12770

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, J. A. van Gerpen, R. J. Uitti, P. J. Mclean, W. 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, T. J. Ferman, B. F. Boeve, R. C. Petersen, J. E. Parisi, N. R. Graff-Radford, D. W. Dickson, Z. K. Wszolek, O. A. Ross

Research output: Contribution to journal › Article › peer-review

15 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 language	English (US)
Pages (from-to)	1323-1325
Number of pages	3
Journal	European Journal of Neurology
Volume	22
Issue number	9
DOIs	https://doi.org/10.1111/ene.12770
State	Published - Sep 1 2015

Keywords

DNAJC13
Genetics
Lewy body disease
Parkinson's disease

ASJC Scopus subject areas

Neurology
Clinical Neurology

Access to Document

10.1111/ene.12770

Cite this

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

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

@article{a074484012a94ce2b3ffb0ad9bb1284e,

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

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.",

keywords = "DNAJC13, Genetics, Lewy body disease, Parkinson's disease",

author = "O. Lorenzo-Betancor and K. Ogaki and Soto-Ortolaza, {A. I.} and C. Labbe and Walton, {R. L.} and Strongosky, {A. J.} and {van Gerpen}, {J. A.} and Uitti, {R. J.} and Mclean, {P. J.} and W. Springer and J. Siuda and G. Opala and A. Krygowska-Wajs and M. Barcikowska and K. Czyzewski and A. Mccarthy and T. Lynch and A. Puschmann and I. Rektorova and Y. Sanotsky and C. Vilari{\~n}o-G{\"u}ell and Farrer, {M. J.} and Ferman, {T. J.} and Boeve, {B. F.} and Petersen, {R. C.} and Parisi, {J. E.} and Graff-Radford, {N. R.} and Dickson, {D. W.} and Wszolek, {Z. K.} and Ross, {O. A.}",

note = "Publisher Copyright: {\textcopyright} 2015 EAN.",

year = "2015",

month = sep,

day = "1",

doi = "10.1111/ene.12770",

language = "English (US)",

volume = "22",

pages = "1323--1325",

journal = "European Journal of Neurology",

issn = "1351-5101",

publisher = "Wiley-Blackwell",

number = "9",

}

TY - JOUR

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, J. A.

AU - Uitti, R. J.

AU - Mclean, P. J.

AU - Springer, W.

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, T. J.

AU - Boeve, B. F.

AU - Petersen, R. C.

AU - Parisi, J. E.

AU - Graff-Radford, N. R.

AU - Dickson, D. W.

AU - Wszolek, Z. K.

AU - Ross, O. A.

PY - 2015/9/1

Y1 - 2015/9/1

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.

KW - DNAJC13

KW - Genetics

KW - Lewy body disease

KW - Parkinson's disease

UR - http://www.scopus.com/inward/record.url?scp=84939427402&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84939427402&partnerID=8YFLogxK

U2 - 10.1111/ene.12770

DO - 10.1111/ene.12770

M3 - Article

C2 - 26278106

AN - SCOPUS:84939427402

SN - 1351-5101

VL - 22

SP - 1323

EP - 1325

JO - European Journal of Neurology

JF - European Journal of Neurology

IS - 9

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this