MDSGene

Overview of included studies for PARK-PINK1:

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Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Tan, 2019	Mutational screen	2	O	n.a.	40(+/-7)	p.Trp90* + c.(?_-94)_(387+1_388-1)del: comp. het. c.(959+1_960-1)_(1123+1_1124-1)del: hom
Wang, 2018	Family study	1	A	100%	28	p.Lys520Argfs*3: hom
Russ, 2018	Other/Mixed	1	n.a.	100%	36	p.Gln456*: hom
Schormair, 2018	Mutational screen	1	C	0%	20	p.Arg492*: hom
Gustavsson, 2017	Mutational screen	4	C	0%	41(+/-8)	c.(776+1_777-1)_(1123+1_1124-1)del + p.His360Arg: comp. het. c.(776+1_777-1)_(1123+1_1124-1)del: hom c.(776+1_777-1)_(1123+1_1124-1)del: het p.Leu77Pro: hom p.Arg152Trp Show more (+2) + p.Ser73Leu + c.(776+1_777-1)_(959+1_960-1)dup: comp. het.
Bouhouche, 2017	Other/Mixed	2	D	100%	48(+/-8)	p.Gln456*: hom p.Leu539Phe: hom
Zech, 2017	Mutational screen	1	C	0%	24	p.Ala339Thr + p.Leu249Val: comp. het.
Norman, 2017	Family study	1	D	n.a.	29	p.Ala217Asp: hom
Taghavi, 2017	Other/Mixed	6	n.a.	33%	28(+/-9)	p.Arg246*: hom
Spataro, 2017	Mutational screen	1	C	0%	40	p.Trp90*: hom
Ben El Haj, 2016	Family study	1	n.a.	100%	54	p.Leu539Phe: hom
Halder, 2015	Mutational screen	1	n.a.	100%	31	p.Gln267*: hom
Al-Mubarak, 2015	Mutational screen	3	n.a.	67%	50(+/-17)	p.Thr313Met: hom p.Gly409Arg: hom
Steele, 2015	Mutational screen	3	O	33%	50(+/-17)	p.Leu347Pro: hom
Siuda, 2014	Family study	2	C	50%	22(+/-8)	p.Gln456*: hom
Monroy-Jaramillo, 2014	Mutational screen	9	O	67%	30(+/-8)	c.(?_-94)_(387+1_388-1)del: hom c.(387+1_388-1)_(675+1_676-1)del + c.(776+1_777-1)_(1123+1_1124-1)del: comp. het. c.(959+1_960-1)_(1123+1_1124-1)dup + c.(387+1_388-1)_(675+1_676-1)dup: comp. het. p.Tyr444Metfs39: hom p.Cys92Alafs15: hom Show more (+2)
Koziorowski, 2013	Mutational screen	1	C	0%	n.a.	p.Ile368Asn: hom
Darvish, 2013	Mutational screen	7	O	n.a.	25	c.(387+1_388-1)_(675+1_676-1)del + c.(387+1_388-1)_(959+1_960-1)del: comp. het. c.(776+1_777-1)_(959+1_960-1)del: hom c.(959+1_960-1)_(1123+1_1124-1)del: hom
Kilarski, 2012	Mutational screen	1	A	0%	29	p.Leu347Pro: hom
Lohmann, 2012	Other/Mixed	3	n.a.	100%	40(+/-10)	p.Leu31*: hom p.Pro416Leu: hom
Scornaienchi, 2012	Mutational screen	3	n.a.	67%	41(+/-13)	p.Gln126Pro: hom p.Trp437: hom p.Gln456: hom
Samaranch, 2010	Family study	6	n.a.	50%	30(+/-10)	p.Leu485_Arg497del: hom p.Glu417_Arg497del + p.Leu485_Arg497del: comp. het.
Keyser, 2010	Mutational screen	3	I	0%	43(+/-5)	p.Tyr258*: hom
Cazeneuve, 2009	Family study	3	n.a.	67%	16(+/-5)	deletions of PINK1 exons 4-8 + 88bp insertion in DDOST intron 2: hom
Camargos, 2009	Mutational screen	1	n.a.	0%	24	c.(1251+1_1252-1)_(1488+1_1489-1)del: hom
Myhre, 2008	Family study	4	n.a.	25%	30(+/-7)	p.Pro416Arg: hom p.Ser419Pro: hom
Guo, 2008	Other/Mixed	4	A	n.a.	26(+/-10)	p.Thr313Met: hom p.Arg492*: hom
Choi, 2008	Mutational screen	1	A	n.a.	n.a.	p.Asn367Ser + p.Asn521Ilefs*2: comp. het.
Kumazawa, 2008	Mutational screen	5	n.a.	20%	34(+/-20)	p.Thr313Met: hom p.Cys388Arg: hom p.Trp437Arg: hom p.Asp297Metfs*22: hom Show more (+1)
Moro, 2008	Mutational screen	1	n.a.	0%	31	p.Val170Gly: hom
Savettieri, 2008	Family study	2	n.a.	100%	29(+/-1)	p.Asp297Metfs*22: hom
Gelmetti, 2008	Case report/Case series	1	n.a.	0%	67	p.Ala244Gly + p.Val317Ile: comp. het.
Prestel, 2008	Family study	2	n.a.	0%	38(+/-3)	p.Gln126Pro: hom
Weng, 2007	Mutational screen	2	A	0%	19(+/-1)	p.Gln239* + p.Arg492: comp. het. p.Arg492: hom
Marongiu, 2007	Family study	1	n.a.	0%	38	c.1252-2_1272del + c.(?_-94)_(*820_?)del: comp. het.
Doostzadeh, 2007	Mutational screen	1	n.a.	0%	30	p.Leu347Pro: hom
Chishti, 2006	Other/Mixed	2	B	n.a.	32(+/-3)	p.Thr313Met: hom
Leutenegger, 2006	Family study	5	B	40%	13(+/-2)	p.Ala217Asp: hom
Hedrich, 2006	Family study	4	C	25%	50(+/-9)	p.Gln456*: hom
Criscuolo, 2006	Other/Mixed	1	n.a.	0%	22	p.Trp437*: hom
Zadikoff, 2006	Case report/Case series	1	n.a.	100%	37	p.Gln456*: hom
Tan, 2006	Mutational screen	2	n.a.	50%	38(+/-19)	p.Arg246: hom p.Tyr258: hom
Ibáñez, 2006	Other/Mixed	12	n.a.	50%	35(+/-8)	p.Gln456: hom p.Gln456 + p.Cys125Gly: comp. het. p.Glu240Lys: hom p.Arg492* + p.Leu369Pro: comp. het. p.Gly386Ala: hom p.Gly409Val: hom p.Lys520Argfs3: hom p.Lys24Glyfs31 Show more (+5) + p.Cys549Trpfs*5: comp. het.
Bonifati, 2005	Mutational screen	3	n.a.	33%	32(+/-3)	p.Ala168Pro: hom p.Trp437: hom p.Gln456: hom
Klein, 2005	Mutational screen	2	n.a.	50%	41(+/-12)	p.Ser284= + p.Arg279His: comp. het. p.Gln534_Ser535insGln: hom
Albanese, 2005	Case report/Case series	1	n.a.	100%	39	p.Ala168Pro: hom
Li, 2005	Family study	3	n.a.	33%	40(+/-3)	p.Cys388Arg: hom c.1123+1247_*881del: hom
Rogaeva, 2004	Mutational screen	2	n.a.	n.a.	30	p.Glu240Lys + p.Leu489Pro: comp. het. p.Leu347Pro: hom
Rohé, 2004	Family study	1	n.a.	0%	28	p.Asp525Valfs*38: hom
Hatano, 2004	Family study	10	n.a.	30%	27(+/-5)	p.Arg246: hom p.Gln239 + p.Arg492*: comp. het. p.His271Gln: hom p.Leu347Pro: hom p.Glu417Gly: hom Show more (+2)
Valente, 2004	Mutational screen	2	n.a.	50%	38(+/-1)	p.Arg464His + p.Cys92Phe: comp. het. p.Ala168Pro: hom
Valente, 2004	Family study	9	n.a.	56%	36(+/-8)	p.Gly309Asp: hom p.Trp437*: hom