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


CONCLUSIONS
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.
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
O
O
Lorenzo-Betancor
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
K
K
Ogaki
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
A I
AI
Soto-Ortolaza
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
C
C
Labbe
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
R L
RL
Walton
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
A J
AJ
Strongosky
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
J A
JA
van Gerpen
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
R J
RJ
Uitti
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
P J
PJ
McLean
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
W
W
Springer
Department of Neurology, Medical University of Silesia, Katowice, Poland.
J
J
Siuda
Department of Neurology, Medical University of Silesia, Katowice, Poland.
G
G
Opala
Department of Neurology, Jagiellonian University, Krakow, Poland.
A
A
Krygowska-Wajs
Department of Neurodegenerative Disorders, Medical Research Centre, Polish Academy of Sciences, Warsaw, Poland.
M
M
Barcikowska
Department of Neurology, Central Hospital of the Ministry of Interior and Administration, Warsaw, Poland.
K
K
Czyzewski
Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland.
A
A
McCarthy
Dublin Neurological Institute at the Mater Misericordiae University Hospital, Conway Institute of Biomolecular and Biomedical Research, University College Dublin, Dublin, Ireland.
T
T
Lynch
Department of Clinical Sciences, Lund University, Lund, Sweden.|Department of Neurology, Skåne University Hospital, Lund, Sweden.
A
A
Puschmann
School of Medicine, Central European Institute of Technology and First Department of Neurology, Masaryk University, Brno, Czech Republic.
I
I
Rektorova
Lviv Regional Clinical Hospital, Lviv, Ukraine.
Y
Y
Sanotsky
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
C
C
Vilariño-Güell
Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada.
M J
MJ
Farrer
Department of Psychiatry and Psychology, Mayo Clinic, Jacksonville, FL, USA.
T J
TJ
Ferman
Department of Neurology, Mayo Clinic, Rochester, MN, USA.
B F
BF
Boeve
Department of Neurology, Mayo Clinic, Rochester, MN, USA.
R C
RC
Petersen
Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA.
J E
JE
Parisi
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
N R
NR
Graff-Radford
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.|Department of Pathology, Mayo Clinic, Jacksonville, FL, USA.
D W
DW
Dickson
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Z K
ZK
Wszolek
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
O A
OA
Ross
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D005060:Europe; D005091:Exons; D005260:Female; D006801:Humans; D020961:Lewy Body Disease / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation; D010300:Parkinson Disease / Q000235:genetics*
C507525:DNAJC13 protein, human; D018832:Molecular Chaperones
DNAJC13; Lewy body disease; Parkinson's disease; genetics