Table 2.
Patients with rare substitutions in AD-PD-associated genes.
| Patient ID | Form | AOO | Sex | Symptoms | Gene | Variant ID | Zygosity | Clinical significance | ACMG classification | MAF | Patients | Controls | Reference |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P15 | F | 25 | f | tremor, slower and altered handwriting, depression, anxiety | LRRK2 | L1795F c.5385G>T rs111910483 |
het | P | LP | <0.01 | 1/142 | 0/117 | (Nichols et al., 2007) |
| P123 | F | 34 | m | hypomimia, tremor, rigidity, bradykinesia, postural instability, freezing, depression | LRRK2 | Y1649S c.4946A>C – |
het | D | LP | – | 1/142 | 0/117 | * |
| P46 | F | 30 | m | tremor, rigidity, bradykinesia, decreased synkinesis of arms, depression | DNAJC13 | L2170W c.6509T>G rs140537885 |
het | D/RF | US | <0.01 | 2/54 | 0/117 | (Gustavsson et al., 2015) |
| P2 | F | 33 | f | tremor, decreased synkinesis of arms | EIF4G1 | M1356T c.4067T>C rs144059151 |
het | D | US | <0.01 | 1/54 | 0/117 | * |
For minor allele frequency (MAF), we used the gnomAD database non-neuro group (v2.1) of European population (non-Finnish). F, familiar aggregatio; f, female; m, male; LRRK2, leucine rich repeat kinase 2; DNAJC13, DnaJ heat shock protein family (Hsp40) member C13; EIF4G1, eukaryotic translation initiation factor 4 gamma 1; het, heterozygous; P, pathogenic; D, damaging; RF, risk factor; ACMG, American College of Medical Genetics; LP, likely pathogenic; US, uncertain significance; AOO, age of onset; MAF, minor allele frequency. *Firstly reported in this study.