Genetics and genomics of Parkinson’s disease

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.

ISSN: 1756-994X