DETERMINATION OF GENETIC ETIOLOGY BY NEXT GENERATION SEQUENCE ANALYSIS IN PARKINSON PATIENTS
Project no. 183 · Status: Kapanmış · 2018
Summary
Aim: To expand molecular etiology and molecular genetic diagnosis algorithms with the next generation sequence analysis of 10 genes (SNCA, LRRK2, VPS35, PARK2, PINK1, PARK7, ATP13A2, PLA2G6, FBXO7, DNAJC6) clinically diagnosed as early-onset Parkinson's Disease. To contribute to the creation, identification of specific mutations for our society and providing genetic counseling to families. Materials&Methods: The study included 30 patients with a history of early-onset Parkinson's Disease, who were regularly followed up in the Department of Neurology, Ege University Medical Faculty Hospital, and who had a history of early-onset Parkinson's Disease in at least one of their first-degree relatives. The investigation of mutations with next generation sequence analysis in patients was done by Ege University Medical Faculty Department of Medical Genetics. Results: As a result of targeted gene gene sequence analysis, eight (26.6%) of 30 patients were detected in 4 different genes, 2 novels, 5 known as 7 different mutations. Four of these mutations were major deletions, 3 were missense and 1 splice site mutations. Our results are expected to contribute to the creation of molecular genetic diagnostic algorithms, to identify specific mutations for our society and to provide genetic counseling to families. Conclusion: DNAJC6 exon 13 deletion and PRKN c.1083 + 1delG mutations, not previously described in the literature, were detected for the first time. PRKN gene mutations and especially large deletions are very common in the group with early onset familial parkinsonism in our society. Keywords: Parkinson, Next Generation Sequencing, mutation