PDF(Pubmed)
Abstract：
The PARK2 gene is located on 6q26, encodes ubiquitin-E3- ligase, and is a transcriptional repressor of p53. It contains 12 exons. PARK2 copy number variants has been reported in various types of neurodevelopmental disorders, namely schizophrenia, Parkinson\'s disease (PD), autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD). In this retrospective study, nine cases (five with microdeletion and four with microduplication) are reported with 6q26 deletion disrupting the PARK2 gene. Microdeletion sizes ranged between 215 Kb and 356 Kb, and duplication between 279 Kb and 726 Kb. These were present within the exons 7-10. Family follow up with FISH probes revealed paternal inheritance in two cases, maternal in two cases, and de novo origin in one case. Our results support previous studies showing that patients with PARK2 CNVs involving exons 5-12 might be more deleterious and cause a unique syndrome. Comprehensive analysis of additional case studies is needed to have a full characterization of this neurological disorder syndrome.
摘要：
PARK2基因位于6q26上，编码泛素-E3-连接酶，是p53的转录抑制因子。它包含12个外显子。已经报道了PARK2拷贝数变异在各种类型的神经发育障碍中，即精神分裂症，帕金森病（PD），自闭症谱系障碍（ASD），注意缺陷/多动障碍（ADHD）。在这项回顾性研究中,据报道，有9例（5例微缺失和4例微重复）6q26缺失破坏了PARK2基因。微缺失大小介于215Kb和356Kb之间，以及279Kb和726Kb之间的重复。这些存在于外显子7-10中。FISH探针的家庭随访显示，在两个案例中，父系遗传。两种情况下的产妇，在一个案例中从头起源。我们的结果支持先前的研究，表明涉及外显子5-12的PARK2CNV患者可能更有害并引起独特的综合征。需要对其他案例研究进行全面分析，以全面描述这种神经系统疾病综合征。
