Overview of included studies for PARK-PRKN:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Ben-Shachar, 2017 Family study 7 B 71% 35(+/-9) 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
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 p.Pro113Thrfs*51
+ c.(534+1_535-1)_(734+1_735-1)del: comp. het.
Taghavi, 2017 Other/Mixed 28 n.a. 61% 25(+/-8) c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(734+1_735-1)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.Arg42Pro: 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 (+5)
Spataro, 2017 Mutational screen 6 C 33% 36(+/-9) c.8-54_171+49del: hom
c.(171+1_172-1)_(534+1_535-1)del: hom
c.(171+1_172-1)_(534+1_535-1)del
+ p.Asn52Metfs*29: comp. het.
p.Gln34Argfs*5
+ c.172-50_734+49del: comp. het.
c.8-54_534+49del: comp. het.
p.Thr415Asn: comp. het.
 Show more (+3)
De Rosa, 2017 Other/Mixed 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 2 A 50% 38(+/-7) c.(171+1_172-1)_(412+1_413-1)del: hom
Morais, 2016 Mutational screen 35 C n.a. 31(+/-11) p.Arg275Trp: hom
p.Arg42Pro: hom
c.8-51491_172-56018del
+ p.Arg42Pro: comp. het.
p.Arg275Trp
+ c.413-16409_534+27042delinsATGCCTGTAA: comp. het.
c.413-10504_534+408delins20
+ p.Arg366Gln: comp. het.
c.413-3460_534+30928del: hom
c.413-27055_534+20428del: hom
c.171+67708_734+58232delins28: hom
c.534+457_734+41025del: hom
p.Asn52Metfs*29: hom
p.Asn52Metfs*29
+ c.8-23204_172-3140del: 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.Thr415Asn
 Show more (+14) + c.172-52958_734+8943del: comp. het.
Anderson-Mooney, 2016 Case report/Case series 2 n.a. 0% n.a. p.Arg275Trp
+ p.Cys253Tyr: comp. het.
Genç, 2016 Case report/Case series 1 B 0% 10 c.(7+1_8-1)_(618+1_619-1)del
+ p.Cys253Tyr: comp. het.
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95