O Lorenzo-Betancor1, K Ogaki1, A I Soto-Ortolaza1, C Labbe1, R L Walton1, A J Strongosky2, J A van Gerpen2, R J Uitti2, P J McLean1, W Springer1, J Siuda3, G Opala3, A Krygowska-Wajs4, M Barcikowska5, K Czyzewski6, A McCarthy7, T Lynch7, A Puschmann8,9, I Rektorova10, Y Sanotsky11, C Vilariño-Güell12, M J Farrer12, T J Ferman13, B F Boeve14, R C Petersen14, J E Parisi15, N R Graff-Radford2, D W Dickson1,16, Z K Wszolek2, O A Ross1. 1. Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA. 2. Department of Neurology, Mayo Clinic, Jacksonville, FL, USA. 3. Department of Neurology, Medical University of Silesia, Katowice, Poland. 4. Department of Neurology, Jagiellonian University, Krakow, Poland. 5. Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland. 6. Department of Neurology, Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland. 7. Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland. 8. Department of Clinical Sciences, Lund University, Lund, Sweden. 9. Department of Neurology, Skåne University Hospital, Lund, Sweden. 10. School of Medicine, Central European Institute of Technology and First Department of Neurology, Masaryk University, Brno, Czech Republic. 11. Lviv Regional Clinical Hospital, Lviv, Ukraine. 12. Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada. 13. Department of Psychiatry and Psychology, Mayo Clinic, Jacksonville, FL, USA. 14. Department of Neurology, Mayo Clinic, Rochester, MN, USA. 15. Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA. 16. Department of Pathology, Mayo Clinic, Jacksonville, FL, USA.
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.
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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