Overview of included studies for ATX-ANO10:
Filter for
carrying
Country
Study Study design N cases Ethnicities Sex
(% )
Mean AAO (+/- SD) Reported mutations
Massey, 2023 Case report/Case series 4 n.a. 25% 25(+/-17) p.Glu388Valfs*3 and p.Glu388Valfs*69: hom
p.Met622Val and p.His600_Gln638del: hom
p.Cys513Arg
+ p.Asp45Argfs*9: comp. het.
Ma, 2022 Case report/Case series 1 A 0% 33 p.Leu405*: hom
Baviera-Muñoz, 2022 Case report/Case series 1 n.a. n.a. 23 p.Phe337Val: hom
Radziwonik, 2022 Case report/Case series 1 n.a. 100% 20 c.1218+1G>C: hom
Ásbjörnsdóttir, 2022 Case report/Case series 2 C 0% 31(+/-1) p.Gly506Arg
+ p.Arg160del: comp. het.
p.Glu33Asnfs*3
+ p.Asp45Argfs*9: comp. het.
Aida, 2022 Case report/Case series 1 A 100% 36 p.Glu206Lysfs*17: hom
Unpublished Case report/Case series 12 O 75% 14(+/-4) p.Leu384Asnfs*91: hom
Vaughan, 2021 Case report/Case series 1 n.a. 100% 41 p.Glu33Asnfs*3
+ p.Asp45Argfs*9: comp. het.
Bogdanova-Mihaylova, 2021 Case report/Case series 3 n.a. 33% 25(+/-17) p.Asp45Argfs*9: hom
p.Asp45Argfs*9
+ p.Glu33Asnfs*3: comp. het.
Kim, 2020 Case report/Case series 2 n.a. 100% 36(+/-1) p.Asp45Argfs*9
+ p.Ser415*: comp. het.
p.Asp45Argfs*10: comp. het.