DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients
2015
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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