Overview of included studies for DYT/PARK-PLA2G6:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Darling, 2019 Case report/Case series 16 n.a. n.a. n.a. p.Phe542Leu
+ p.Arg635*: comp. het.
p.Gly517Argfs*29: hom
p.Arg741Trp
+ p.Tyr790*: comp. het.
p.Gln673*: hom
p.Ala227Val: hom
p.Arg635*: hom
p.Tyr790*: hom
p.Arg741Trp: hom
p.Glu547Gly: hom
p.His479Asp: comp. het.
p.Ala343Thr
 Show more (+8) + p.Leu337Gln: comp. het.
Kamel, 2019 Case report/Case series 1 n.a. 0% n.a. p.Asp739His: hom
Huang, 2018 Case report/Case series 1 n.a. 100% 31 p.Ser359Ser
+ p.Asp331Tyr: comp. het.
Chen, 2018 Case report/Case series 4 A 75% 28(+/-3) p.Gly373Arg
+ p.Ser504Leu: comp. het.
p.Ala639Thr
+ p.Pro223Leu: comp. het.
p.Thr661Met
+ p.Asp331Tyr: comp. het.
p.Gly740Arg: comp. het.
 Show more (+1)
Dastsooz, 2017 Case report/Case series 1 n.a. 100% 2 p.Met1Ile: hom
Wirth, 2017 Case report/Case series 2 C 100% 25(+/-3) p.Arg37*
+ p.Ser774Ile: comp. het.
p.Ala781Thr
+ p.Gly253Val: comp. het.
Ozes, 2017 Other/Mixed 4 n.a. 100% 10(+/-7) p.Arg747Trp: hom
p.Leu596Phe: hom
p.Ala633Val
+ p.Ser589Thrfs*76: comp. het.
Tello, 2017 Sib pair study 2 n.a. 0% n.a. p.Ala227Val: hom
Michelis, 2017 Case report/Case series 1 n.a. 100% 34 p.Met534Ile
+ p.Arg635*: comp. het.
Mascalchi, 2017 Sib pair study 2 n.a. 50% n.a. c.(609+1_610-1)_(1186+1_1187-1)dup
+ p.Arg635*: comp. het.
Yamashita, 2017 Mutational screen 2 A 50% 32(+/-10) p.Ala499Thr: hom
Guo, 2017 Case report/Case series 1 n.a. 100% 7 p.Ser359Ser
+ p.Lys545Arg: comp. het.
Li, 2016 Sib pair study 2 A 100% 1(+/-0) p.Met1Val
+ p.Arg591Trp: comp. het.
Klein, 2016 Family study 2 n.a. 0% 31(+/-14) c.610-1G>T
+ p.Arg543Cys: comp. het.
Al-Maawali, 2016 Case report/Case series 9 n.a. 67% n.a. p.Ala244_Asn247del
+ p.Val236Asp: comp. het.
p.Ile366Asn: hom
p.Gln797*
+ p.Arg741Trp: comp. het.
p.Lys678Glu: hom
p.Arg329His
+ p.Ala316dup: comp. het.
p.Pro593Leu
 Show more (+3) + p.Asn658Lys: comp. het.
Blake, 2016 Case report/Case series 1 n.a. 0% 2 p.Leu560Trpfs*5
+ p.Tyr790*: comp. het.
Bohlega, 2016 Family study 3 n.a. 33% 24(+/-2) p.Arg741Gln: hom
Kapoor, 2016 Mutational screen 10 n.a. 70% 3(+/-3) p.Arg741Trp: hom
p.Gly347Arg: hom
p.Arg70*: hom
p.Arg329Cys: hom
p.Ala80Thr: hom
p.Leu224Pro: hom
p.Asp283Asn: hom
p.Ala516Val: hom
p.Leu491Phe: hom
p.Arg538His: hom
p.Gly638Arg
 Show more (+8) + p.Arg649His: comp. het.
Kulkarni, 2016 Case report/Case series 2 n.a. 50% 2(+/-1) p.Lys683*: hom
p.Leu224Pro: hom
Yamamoto, 2015 Case report/Case series 1 n.a. 0% n.a. c.426_797del372: n.a.
p.Asp283Asn: het
Karkheiran, 2015 Other/Mixed 1 n.a. 100% 14 p.Arg741Gln: hom
Xie, 2015 Mutational screen 2 n.a. 100% 36(+/-0) p.Asp331Tyr: hom
Kim, 2015 Other/Mixed 2 A 50% 14(+/-11) p.Ser557Leu
+ p.Gly347Arg: comp. het.
Malaguti, 2015 Case report/Case series 1 C 0% 27 p.Ala516Val: hom
Romani, 2015 Case report/Case series 2 n.a. 0% n.a. p.Glu547Gly: hom
p.Arg745Pro: hom
Frattini, 2015 Case report/Case series 1 n.a. 0% 0 p.Met1Ile
+ p.Arg745Trp: comp. het.
Cif, 2014 Case report/Case series 1 JO 0% 5 p.Glu547Gly: hom
Illingworth, 2014 Case report/Case series 5 n.a. 40% 2(+/-1) p.Arg600Trp
+ p.Lys509Glnfs*5: comp. het.
p.Gly586Arg: hom
p.His792Pro: hom
p.Leu560Trpfs*5
+ c.(609+1_610-1)_(1186+1_1187-1)dup: comp. het.
p.Tyr790*
 Show more (+2) + p.Gly231Arg: comp. het.
Solomons, 2014 Case report/Case series 1 n.a. 0% 2 p.Leu451Tyrfs*20: hom
Salih, 2013 Case report/Case series 11 B 45% 2(+/-2) p.Val376Trpfs*14: hom
p.Ser637Argfs*29: hom
p.Arg591Gln: hom
p.Arg645*: hom
p.Gly740Arg: hom
p.His225Tyr: hom
 Show more (+3)
El, 2013 Case report/Case series 1 n.a. 100% 1 p.Val691del: hom
Zhang, 2013 Mutational screen 1 A 100% 14 p.Ile689Phe
+ p.Gly373Arg: comp. het.
Agarwal, 2012 Case report/Case series 1 n.a. 100% 19 p.Ala80Thr: hom
Lu, 2012 Mutational screen 3 A 0% 19(+/-11) p.Asp331Tyr: hom
p.Ser359Ser
+ p.Asp331Tyr: comp. het.
Paisán-Ruiz, 2012 Case report/Case series 2 n.a. 0% 24 c.1078-3C>A
+ p.Arg37*: comp. het.
p.Thr572Ile: hom
Yoshino, 2010 Case report/Case series 3 n.a. 67% 25(+/-5) p.Arg635Gln
+ p.Phe72Leu: comp. het.
p.Gln452*: comp. het.
Crompton, 2010 Case report/Case series 4 C 75% 2(+/-1) p.Leu560Trpfs*5
+ c.(609+1_610-1)_(1186+1_1187-1)dup: comp. het.
c.(797+1_798-1)_(1077+1_1078-1)del: hom
Sina, 2009 Family study 3 n.a. 67% 23(+/-2) p.Arg632Trp: hom
Paisan-Ruiz, 2009 Mutational screen 3 n.a. 33% 18(+/-8) p.Arg741Gln: hom
p.Arg747Trp: hom
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95