MDSGene

Overview of included studies for DYT/PARK-TH:

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Country

Study	Study design	N cases	Ethnicities	Sex (% ♂)	Mean AAO (+/- SD)	Reported mutations
Bijarnia-Mahay, 2020	Case report/Case series	1	n.a.	0%	0	c.-2188_103-194del + p.Thr399Met: comp. het.
Chen, 2020	Case report/Case series	22	A	64%	0(+/-0)	p.Arg233His + p.Arg129: comp. het. p.Arg245Met + p.Arg153: comp. het. p.Gly247Ser + p.Ser349Pro: comp. het. p.Arg233His: hom c.1070+1G>T: comp. het. p.Gly315Ser: comp. het. p.Thr256Ile + c.1071-1_1112delGCCAGCATGGGCACGTGCCCCAGCAGCTCGTGGCAGCAGTCCC: comp. het. c.-71C>T: comp. het. p.Asp491His: comp. het. c.738-2A>G + p.His347Tyr: comp. het. p.Thr494Met: comp. het. p.His361Gln + p.Gly414Arg: comp. het. p.Gln232*: comp. het. p.Pro223Leu: comp. het. c.737+8_737+9delGCinsTT: comp. het. Show more (+12)
Bally, 2020	Case report/Case series	1	n.a.	100%	38	p.Ser390Leu + p.Leu99Argfs*15: comp. het.
Hou, 2019	Case report/Case series	3	A	67%	0(+/-0)	p.Arg484Leu + p.Arg233His: comp. het. c.581-1G>A: comp. het. p.Arg129* + p.Glu258Gln: comp. het.
Couto, 2019	Case report/Case series	1	n.a.	0%	3	p.Leu273Phe: hom
Feng, 2018	Case report/Case series	1	A	100%	0	p.Arg153* + p.Arg233His: comp. het.
Ma, 2018	Mutational screen	1	A	0%	25	p.Pro249Leu: hom
Yang, 2018	Case report/Case series	2	A	0%	1	p.Gly247Ser + p.Arg153*: comp. het. p.Arg233His: hom
Kuwabara, 2018	Case report/Case series	1	A	0%	0	p.Arg233His + c.1141-1G>A: comp. het.
Katus, 2017	Case report/Case series	1	A	100%	n.a.	p.Thr494Met: hom
Goswami, 2017	Sib pair study	2	I	100%	1(+/-0)	p.Gly428Arg + p.Arg233His: comp. het.
Zhang, 2017	Case report/Case series	4	A	25%	1	p.Arg476Ser + p.Arg233His: comp. het. c.738-34G>C + p.Gly315Ser: comp. het. p.Gly247Ser + p.Arg328Gln: comp. het. p.Arg153*: comp. het. Show more (+1)
Yan, 2017	Case report/Case series	1	A	0%	15	p.His361Gln + p.Arg441Trp: comp. het.
Sun, 2014	Family study	2	A	50%	3(+/-0)	p.Ala335Val + p.Arg484His: comp. het.
Al-Muslamani, 2014	Case report/Case series	1	n.a.	100%	1	p.Arg313Leu: hom
Pons, 2013	Case report/Case series	5	n.a.	0%	0(+/-0)	p.Leu236Pro: hom
Stamelou, 2012	Sib pair study	3	O	33%	1(+/-0)	c.-71C>T + p.Gly428Arg: comp. het.
Szentiványi, 2012	Case report/Case series	1	C	100%	0	p.Gln243Pro + p.Glu406Gln : comp. het.
Chi, 2012	Case report/Case series	6	A	50%	0(+/-0)	p.Ile382Thr + p.Arg233His: comp. het. p.Arg153: comp. het. p.Gln232: comp. het. p.Arg233His: hom p.Arg153*: hom p.Gly315Ser: comp. het. Show more (+3)
Giovanniello, 2012	Case report/Case series	1	C	100%	0	p.Pro251Leu + p.Arg296Gln + p.Cys279Phe: comp. het.
Haugarvoll, 2011	Case report/Case series	2	n.a.	100%	3(+/-3)	p.Asp498Gly + p.Arg441Pro: comp. het. p.Arg233His + p.Gly414Arg: comp. het.
Ormazabal, 2011	Case report/Case series	1	n.a.	0%	2	c.1197+25_1397del + c.-70G>A: comp. het.
Yeung, 2011	Case report/Case series	10	A	40%	2(+/-3)	p.Gln232* + p.Arg233His: comp. het. p.Gly294Arg + c.1197+5G>C: comp. het. p.Gly247Ser + p.Gly408Arg: comp. het. p.Arg153*: comp. het. p.Gly315Ser + p.Ala385Val: comp. het. p.Ile394Thr: comp. het. p.Arg233His: hom Show more (+4)
Yosunkaya, 2010	Sib pair study	3	n.a.	100%	0(+/-0)	p.Pro492Arg: hom
Clot, 2009	Mutational screen	3	n.a.	0%	1(+/-0)	p. Ser467Gly + p.Phe375Leu: comp. het. p.Gly414Arg + p.Arg319Pro: comp. het. p.Pro301Ala: hom
Zafeiriou, 2009	Case report/Case series	1	C	100%	0	p.Leu236Pro: hom
Wu, 2008	Family study	1	A	0%	3	p.Gly247Ser + p.Arg233His: comp. het.
Giovanniello, 2007	Case report/Case series	1	C	100%	2	p.Gly414Arg + p.Leu510Gln: comp. het.
Ribasés, 2007	Case report/Case series	1	C	0%	0	c.-71C>T: hom
Yeung, 2006	Sib pair study	2	A	50%	0(+/-0)	p.R169* + p.Arg233His: comp. het.
Møller, 2005	Case report/Case series	1	C	0%	0	p.Arg328Trp + p.Thr399Met: comp. het.
Diepold, 2005	Case report/Case series	1	n.a.	0%	1	p.Asp498Gly + p.His246Tyr: comp. het.
Schiller, 2004	Sib pair study	2	n.a.	100%	3(+/-0)	p.Ala376Val + p.Asp498Gly: comp. het.
Hoffmann, 2003	Case report/Case series	1	n.a.	n.a.	0	p.Leu236Pro: hom
Grattan-Smith, 2002	Case report/Case series	1	n.a.	0%	0	p.Arg233His: hom
Furukawa, 2001	Case report/Case series	1	C	100%	1	p.Leu99Argfs*15 + p.Asp498Gly: comp. het.
Janssen, 2000	Case report/Case series	2	C	50%	0(+/-0)	p.Arg233His + c.1198-24T>A: comp. het.
Swaans, 2000	Case report/Case series	3	n.a.	100%	3(+/-2)	p.Thr494Met + p.Arg337His: comp. het. p.Thr276Pro + p.Thr314Met: comp. het.
DE Lonlay, 2000	Case report/Case series	1	C	100%	0	p.Phe309Ser: hom
Bräutigam, 1999	Case report/Case series	1	C	100%	0	p.Cys359Phe: hom
Bräutigam, 1998	Case report/Case series	4	C	50%	n.a.	p.Arg233His + p.Leu99Trpfs*15: comp. het. p.Arg233His: hom
Lüdecke, 1996	Case report/Case series	1	C	0%	0	p.Leu236Pro: hom