Table 2.
Mendelian mutations in familial parkinsonism
| Gene | Mutation(s) | OMIM | Reference(s) |
|---|---|---|---|
|
Dominantly inherited, late onset parkinsonism with Lewy pathology |
|
|
|
|
SNCA |
Locus multiplication and missense mutations: A30P, E46K, H50Q, G51N, A53T |
168601, 605543 |
[56,58] |
|
LRRK2 |
R1437H, R1441H, R1441G, R1441C, Y1699C, G2019S, I2020T |
607060 |
[20,31,32] |
|
VPS35 |
D620N |
614203 |
[63,64] |
|
EIF4G1 |
R1205H |
614251 |
[149] |
|
DNAJC13 |
N855S |
614334 |
[93] |
|
Recessively inherited, early-onset or X-linked atypical parkinsonism | |||
|
PARK2 (Parkin) |
Numerous exon deletions, duplications and missense mutations |
600116 |
[109] |
|
PINK1 |
Rare locus and exon deletions. Numerous missense mutations, including E129X, Q129fsX157, P196L, G309N W437X, G440E, Q456X |
605909 |
[147,151] |
|
DJ-1 |
Deletions and missense: dup168-185, A39S, E64D, D149A, Q163L, L166P, M261I. |
606324 |
[123] |
|
DNAJC6 |
Splice site c.801 -2 A > G and truncating mutation Q734X |
615528 |
[70] |
|
ATP13A2 |
Missense: L552fsX788, M810R, G877R, G1019fsX1021. Small insertions and deletions: 1103insGA, del2742TT |
606693 |
[102] |
|
FBXO7 |
T22M, R378G, R498X |
260300 |
[68] |
|
PLA2G6 |
D331Y, R635Q,R741Q, R747W |
612953 |
[152] |
|
ATP6AP2 |
Splice site mutations |
|
[71] |
| SYNJ1 | Homozygous missense: R258Q | 615530 | [72] |
OMIM, Online Mendelian Inheritance in Man, a database that catalogs all the known diseases with a genetic component.