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

• Published in: European journal of neurology Vol. 22; no. 9; pp. 1323 - 1325
• Main 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.
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01-09-2015; John Wiley & Sons, Inc
• Subjects: Adult; Aged; Aged, 80 and over; Clinical Medicine; DNAJC13; Europe; Exons; Female; genetics; Humans; Klinisk medicin; Lewy body disease; Lewy Body Disease - genetics; Male; Medical and Health Sciences; Medicin och hälsovetenskap; Middle Aged; Molecular Chaperones - genetics; Mutation; Neurologi; Neurology; Parkinson Disease - genetics; Parkinson's disease; DNAJC13; Parkinson's disease; genetics; Lewy body disease
• ISSN: 1351-5101; 1468-1331
• DOI: 10.1111/ene.12770

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.