Overview of included studies for PARK-PRKN:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% ♂) 		Mean AAO (+/- SD) Reported mutations
Ruffmann, 2012 Case report/Case series 2 n.a. n.a. n.a. c.(171+1_172-1)_(412+1_413-1)del
+ p.Arg275Trp: comp. het.
Moura, 2012 Mutational screen 1 n.a. 100% 46 c.(171+1_172-1)_(412+1_413-1)dup
+ c.(534+1_535-1)_(734+1_735-1)del: comp. het.
Funayama, 2012 Family study 1 A 0% 15 c.(171+1_172-1)_(871+1_872-1)dup
+ c.(171+1_172-1)_(618+1_619-1)del: comp. het.
Haylett, 2012 Mutational screen 4 n.a. n.a. 39(+/-15) p.Gly430Asp
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del
+ p.Pro113Thrfs*51: comp. het.
c.(534+1_535-1)_(618+1_619-1)dup
+ c.(7+1_8-1)_(734+1_735-1)dup: comp. het.
Elfferich, 2011 Mutational screen 12 n.a. 43% 35(+/-12) c.172-5243_412+18307del
+ c.8-61987_171+4006del: comp. het.
c.8-48180_171+84346del
+ c.734+61166_871+2877dupinsTGCAATT: comp. het.
p.Gln34Argfs*5
+ c.172-4427_413-6108del: comp. het.
p.Arg275Trp: comp. het.
c.413-26603_534+367del27092ins28: comp. het.
c.534+17825_735-64158del: comp. het.
c.1-17782_7+123791del
+ c.171+11347_618+17328del395200: comp. het.
c.8-51502_172-33560dupinsT: comp. het.
 Show more (+5)
Hassin-Baer, 2011 Family study 12 B 67% 26(+/-10) p.Gln34Argfs*10: hom
Ghazavi, 2011 Mutational screen 7 n.a. 86% 26(+/-6) p.Arg42Pro
+ p.Cys441Arg: comp. het.
p.Thr240Met
+ c.(412+1_413-1)_(534+1_535-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(534+1_535-1)_(734+1_735-1)del: hom
c.1083+1G>A: hom
 Show more (+3)
Yoritaka, 2011 Other/Mixed 5 A 80% 41(+/-14) c.(7+1_8-1)_(171+1_172-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.(7+1_8-1)_(534+1_535-1)del: hom
c.(618+1_619-1)_(871+1_872-1)del: hom
 Show more (+1)
Pacelli, 2011 Family study 2 C 0% 33(+/-3) c.(171+1_172-1)_(412+1_413-1)del
+ c.(7+1_8-1)_(412+1_413-1)del: comp. het.
c.(171+1_172-1)_(412+1_413-1)del: n.a.
c.(7+1_8-1)_(412+1_413-1)del: het
Guo, 2011 Mutational screen 6 A 100% 32(+/-7) c.(171+1_172-1)_(412+1_413-1)del: hom
p.Cys238Alafs*21
+ c.(171+1_172-1)_(412+1_413-1)del: comp. het.
c.(412+1_413-1)_(534+1_535-1)del: hom
c.(534+1_535-1)_(618+1_619-1)del: hom
c.8-39T>G
+ c.(618+1_619-1)_(734+1_735-1)del: comp. het.
c.(534+1_535-1)_(618+1_619-1)del
 Show more (+3) + c.(7+1_8-1)_(412+1_413-1)del: comp. het.
© University of Lübeck. Last updated on Dec. 2, 2020. Version: 3.5.95