Table 1.
Overview of the FiMe Major PD Genes
| Mutation spectrum | ||||||||
|---|---|---|---|---|---|---|---|---|
| Gene | MIM number | Inheritance | Position | Gene size | Number of exons | Transcript length | Classic mutations | Copy number variations |
| SNCA | 163890 | AD | 4q21 | 112 kb | 6 | 1,543 bp | Missense (0.9%) | Whole gene duplication and triplication (0.6%) |
| LRRK2 | 609007 | AD | 12q12 | 144 kb | 51 | 9,225 bp | Missense (18.2%) | — |
| PARK2 | 602544 | AR | 6q26 | 1.38 Mb | 12 | 4,073 bp | Nonsense, frameshift (indels and splice site), missense (32.4%) | Single or multiple exon deletions and duplications (15.8%) |
| PINK1 | 608309 | AR | 1p35-36 | 18 kb | 8 | 2,660 bp | Nonsense, framshift (indels), missense (24.7%) | Single or multiple exon deletions; whole gene deletion (1.2%) |
| PARK7 or DJ-1 | 602533 | AR | 1p36 | 34 kb | 7 | 961 bp | Missense (4.4%) | Single or multiple exon deletions and duplications (1.2%) |
(%) Number of (possible) pathogenic mutations for this gene/total number of (possible) pathogenic mutations.