Overview of included studies for PARK-Parkin:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Ben-Shachar, 2017 Family study none 9 B 67% 34(+/-8) p.Cys332*: hom
p.Pro37Leu: hom
p.Gln34Argfs*10: hom
c.(412+1_413-1)_(534+1_535-1)del
+ p.Gln34Argfs*10: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
Show more (+2)
Uchihara, 2017 Case report/Case series none 1 n.g. 100% 33 c.(412+1_413-1)_(534+1_535-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
Isaacs, 2017 Sib pair study none 1 n.g. 100% 12 c.(534+1_535-1)_(734+1_735-1)del
+ p.Pro113Thrfs*51: comp. het.
Taghavi, 2017 Mutational screen none 40 n.g. 60% 25(+/-9) c.535-104014_618+24033delTGAGTGATGCCTins: hom
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(618+1_619-1)_(734+1_735-1)del: hom
p.Thr414Profs*20: hom
p.Arg42Pro: hom
c.(171+1_172-1)_(871+1_872-1)del: hom
c.(534+1_535-1)_(871+1_872-1)del: hom
c.(933+1_934-1)_(1083+1_1084-1)del: hom
Show more (+9)
Spataro, 2017 Mutational screen none 7 C 43% 41(+/-15) c.8-54_171+49del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
p.Asn52Metfs*29
+ c.(171+1_172-1)_(534+1_535-1)del: comp. het.
c.172-50_734+49del
+ p.Gln34Argfs*5: comp. het.
c.8-54_534+49del: comp. het.
p.Thr415Asn: comp. het.
c.172-50_412+113dup: hom
Show more (+4)
De Rosa, 2017 Other/Mixed none 4 C 75% 33(+/-11) c.(534+1_535-1)_(618+1_619-1)del
+ p.Cys253Tyr: comp. het.
c.(7+1_8-1)_(171+1_172-1)del
+ c.(7+1_8-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
Sato, 2016 Case report/Case series none 2 A 50% 38(+/-7) c.(171+1_172-1)_(412+1_413-1)del: hom
Morais, 2016 Mutational screen none 39 C n.g. 30(+/-11) p.Arg275Trp: hom
p.Arg42Pro: hom
p.Arg42Pro
+ c.8-51491_172-56018del: comp. het.
c.413-16409_534+27042delinsATGCCTGTAA
+ p.Arg275Trp: comp. het.
c.413-10504_534+408delins20
+ p.Arg366Gln: comp. het.
c.1084-3859_1167+1618del: hom
c.413-3460_534+30928del: hom
c.413-27055_534+20428del: hom
c.171+67708_734+58232delins28: hom
c.413-18966_871+72957delinsA: hom
c.534+457_734+41025del: hom
p.Asn52Metfs*29: hom
c.8-23204_172-3140del
+ p.Asn52Metfs*29: comp. het.
c.172-11910_413-22473delinsAT: comp. het.
c.412+25822_535-71707delinsTGA: comp. het.
c.172-16570_734+51279del: comp. het.
c.412+2768_734+92226del: comp. het.
c.735-21670_1083+48265delinsATG: comp. het.
p.Glu344Serfs*91
+ c.1286-3C>G: comp. het.
p.Leu358Argfs*77: hom
c.172-52958_734+8943del
Show more (+18) + p.Thr415Asn: comp. het.
Chen, 2016 Family study none 2 A 50% 15(+/-10) p.Gly284Arg: hom
Anderson-Mooney, 2016 Case report/Case series none 2 n.g. 0% n.g. p.Cys253Tyr
+ p.Arg275Trp: comp. het.