Genetic variants of PARK genes in Korean patients with early-onset Parkinson's disease

초록

Early-onset Parkinson's disease (EOPD) can be linked to different genetic backgrounds depending on the disease characteristics. In Korean patients with EOPD, however, only 5 PARK genes have been tested. We recruited 70 patients with EOPD from 4 hospitals in Korea, and 12 PARK genes were screened via multigene panel sequencing. Large insertions or deletions were confirmed by multiplex ligation-dependent probe amplification. We found 20 rare variants (2 in SNCA, 2 in PRKN, 6 in LRRK2, 3 in PINK1, 1 in DJ1, 4 in FBX07, 1 in HTRA2, and 1 in EIG4G1) in 20 subjects regardless of heterogeneity. Two pathogenic variants (SNCA in 2 subjects and DJ1 in one) were from 3 subjects, and 7 likely pathogenic variants (SNCA, LRRK2, FBXO7, and 2 in PINK1 and PRKN) from 7. Akinetic-rigid subtype and dystonia were more common in patients with EOPD with rare variants than in those without rare variants. Multigene panel tests can be effective at identifying genetic variants in patients with EOPD. In addition, we suggest there are different genetic backgrounds in patients with EOPD.

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