Overview of included studies for PARK-Parkin:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Petrucci, 2017 Case report/Case series 1 C 0% 45 c.(7+1_8-1)_(412+1_413-1)dup: hom
Gustavsson, 2017 Mutational screen 3 C 67% 36(+/-6) c.(412+1_413-1)_(534+1_535-1)del: hom
c.(412+1_413-1)_(534+1_535-1)del
+ p.Arg275Trp: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
Bouhouche, 2017 Other/Mixed 3 B 100% 33(+/-14) c.172-83430_534+21281del
+ c.172-99350_871+11495del: comp. het.
c.934-20481_1083+134117del: hom
c.619-46638_871+105513del: hom
Ben-Shachar, 2017 Family study 9 B 67% 34(+/-8) p.Pro37Leu: hom
p.Cys332*: hom
p.Gln34Argfs*10: hom
p.Gln34Argfs*10
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
 Show more (+2)
Uchihara, 2017 Case report/Case series 1 n.a. 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 1 n.a. 100% 12 c.(534+1_535-1)_(734+1_735-1)del
+ p.Pro113Thrfs*51: comp. het.
Taghavi, 2017 Other/Mixed 40 n.a. 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)
Nonnekes, 2017 Case report/Case series 1 n.a. 100% 45 c.(618+1_619-1)_(734+1_735-1)dup
+ p.Cys332Arg: comp. het.
Spataro, 2017 Mutational screen 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.
p.Gln34Argfs*5
+ c.172-50_734+49del: 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 4 C 75% 33(+/-11) p.Cys253Tyr
+ c.(534+1_535-1)_(618+1_619-1)del: comp. het.
c.(7+1_8-1)_(412+1_413-1)del
+ c.(7+1_8-1)_(171+1_172-1)del: comp. het.
c.(171+1_172-1)_(534+1_535-1)del: hom
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95