Journal
EUROPEAN JOURNAL OF NEUROLOGY
Volume 22, Issue 9, Pages 1323-1325Publisher
WILEY
DOI: 10.1111/ene.12770
Keywords
DNAJC13; genetics; Lewy body disease; Parkinson's disease
Categories
Funding
- NINDS NIH HHS [R01 NS078086, P50 NS072187, R01 NS085070] Funding Source: Medline
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BackgroundRecently, 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. MethodsIn 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). ResultsOur 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. ConclusionOur 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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