Objective: The aim of this study was to evaluate rare damaging variants in disease-causing gene of Parkinson’s disease (PD) and other movement disorders, and to assess the effectiveness of exome sequencing in PD of Chinese population.

Background: Recent years have witnessed a fast development of next-generation sequencing in PD, which indicated that PD had a high genetic load; however, the genetic diagnostic yield has not been fully and systematically evaluated in China.

Method: We performed multiplex ligation-dependent probe amplification assay and whole-exome sequencing on 1,670 unrelated patients with PD in Chinese population, including 204 autosomal recessive patients (ARPD), 269 autosomal dominant patients (ADPD), and 1,197 early-onset PD patients (age of onset < 50, EOPD).

Results: We found 66 (32.35%), 27 (10.03%), and 95 (7.94%) patients carry rare damaging variants (RDV) of known PD disease-causing genes in ARPD, ADPD, and EOPD cohorts, respectively. Moreover, additional 20 (10.3%), 30 (11.2%), and 141 (11.8%) patients carry RDV of disease-causing genes of movement disorders (such as dystonia, neurodegeneration with brain iron accumulation, primary familial brain calcification, Wilson’s disease) in ARPD, ADPD, and EOPD cohorts, respectively. Furthermore, patients with RDV of disease-causing genes in PD and other movement disorders have significantly lower age of onset (p < 0.001), suggesting early-onset of Parkinsonism have a stronger hereditary component.

Conclusion: Our results provided a better understanding of the genetic spectrum of PD in Chinese population and indicated early onset and familial PD patients yield more genetic diagnosis.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/effectiveness-of-exome-sequencing-in-parkinsons-disease-of-chinese-population/