Overview of included studies for ATX-ANO10:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Yang, 2020 Family study 1 A 0% 37 p.Ser415*: hom
Nieto, 2019 Case report/Case series 3 n.a. 33% 32(+/-5) p.Asp45Argfs*9: hom
Nanetti, 2019 Mutational screen 10 n.a. 40% 40(+/-8) p.Met97*: hom
p.Ser363Ilefs*7: hom
p.Met97*
+ p.Leu173Argfs*7: comp. het.
c.337+1G>A
+ p.Asp473Alafs*36: comp. het.
c.(1797+1_1798-1)_(1914+1_1915-1)del
+ p.Trp272Ser: comp. het.
p.Gln431*
+ p.Asp45Argfs*9: comp. het.
p.Trp555Ser: comp. het.
p.Ala520Glyfs*7: comp. het.
Show more (+5)
Kang, 2019 Mutational screen 2 n.a. 50% 37(+/-6) c.1219-1G>T
+ p.Asp45Argfs*9: comp. het.
p.Met1?: hom
Sun, 2019 Mutational screen 3 n.a. 33% 19(+/-2) p.Asp45Argfs*9: hom
p.Glu33Asnfs*3
+ p.Tyr102*: comp. het.
Coutelier, 2018 Mutational screen 4 n.a. n.a. 23(+/-1) p.Asp45Argfs*9
+ p.Cys513Arg: comp. het.
p.Asp45Argfs*9: hom
p.Met97*: hom
Bogdanova-Mihaylova, 2017 Family study 3 C 67% 36(+/-6) p.Asp45Argfs*9: hom
Bodranghien, 2017 Case report/Case series 1 n.a. 0% 24 c.1219-1G>T: hom
Mišković, 2016 Family study 11 O 45% 19(+/-6) p.Leu384Asnfs*91: hom
Chamard, 2016 Family study 2 C 50% 28(+/-3) p.Asp45Argfs*9
+ p.Phe337Val: comp. het.