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.Arg160del
+ p.Gly506Arg: 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Unpublished Case report/Case series 12 O 75% 14(+/-4) p.Leu384Asnfs*91: hom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.Asp45Argfs*9
+ p.Glu33Asnfs*3: comp. het.
Bogdanova-Mihaylova, 2021 Case report/Case series 3 n.a. 33% 25(+/-17) p.Asp45Argfs*9: hom
p.Glu33Asnfs*3
+ p.Asp45Argfs*9: 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.
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.
p.Trp272Ser
+ c.(1797+1_1798-1)_(1914+1_1915-1)del: 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.Cys513Arg
+ p.Asp45Argfs*9: 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.Phe337Val
+ p.Asp45Argfs*9: comp. het.
Minnerop, 2015 Case report/Case series 1 C 0% 20 p.Asp45Argfs*9: hom
Yoshida, 2014 Case report/Case series 1 A 100% 41 p.Ile166Alafs*3: hom
Balreira, 2014 Case report/Case series 2 n.a. 0% 38(+/-11) p.Asp615Asn
+ p.Asp45Argfs*9: comp. het.
p.Glu382*: comp. het.
Fogel, 2014 Mutational screen 1 C 100% n.a. p.Asp45Argfs*9: hom
Renaud, 2014 Case report/Case series 9 n.a. 33% 33(+/-7) c.1668+1G>A: hom
p.Gln431*
+ p.Gly229Trp: comp. het.
p.Phe337Val
+ p.Asp45Argfs*9: comp. het.
p.Leu405*
+ p.Ser432_Leu492del: comp. het.
c.(1797+1_1798-1)_(1914+1_1915-1)del: hom
c.(1797+1_1798-1)_(1914+1_1915-1)del: comp. het.
p.Phe171Ser: comp. het.
 Show more (+4)
Maruyama, 2014 Case report/Case series 1 A 100% 46 p.Tyr203*: hom
Chamova, 2012 Family study 3 O 67% 17(+/-1) p.Leu384Asnfs*91: hom
Vermeer, 2010 Case report/Case series 8 n.a. 38% 24(+/-11) p.Leu510Arg: hom
p.Leu384Asnfs*91: hom
p.Ser432_Leu492del
+ p.Leu535*: comp. het.
© University of Lübeck. Last updated on Feb. 11, 2020. Version: 3.5.91