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
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
Department of Neurology, Mayo Clinic, Jacksonville, FL, USA.
Eur J Neurol. 2015 Sep;22(9):1323-5. doi: 10.1111/ene.12770.
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.
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).
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.
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.
最近,据报道DNAJC13基因第24外显子的一种新型突变(p.Asn855Ser,rs387907571)在一个多发病例的门诺派家族中导致常染色体显性帕金森病(PD)。
在本研究中,对一个白种人队列中的DNAJC13基因含突变外显子进行了测序,该队列包括1938例临床诊断为PD的患者和838例经病理诊断为路易体病(LBD)的患者。
我们的序列分析未在DNAJC13基因第24外显子中鉴定出任何编码变异。观察到内含子23中两个先前描述的变异(rs200204728和rs2369796)。
我们的结果表明,DNAJC13基因p.Asn855Ser替换周围区域高度保守,该外显子中的突变在白种人群体中并非PD或LBD的常见病因。