Overview of included studies for CHOR-PDE10A:
Filter for
carrying
Study Study design Age restriction N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Miyatake, 2018 Family study none 4 A 50% 8(+/-5) p.Phe300Leu: het
Narayanan, 2018 Family study none 2 I 50% 4(+/-1) p.Phe334Cys: het
Esposito, 2017 Case report/Case series none 1 C 100% 3 p.Phe334Leu: het
Mencacci, 2016 Case report/Case series none 3 C 33% 6(+/-2) p.Phe334Leu: het
p.Phe300Leu: het
Diggle, 2016 Family study none 6 n.g. 50% 2(+/-2) p.Tyr107Cys: hom
p.Ala116Pro: hom