Retrospective Study
Copyright ©The Author(s) 2021.
World J Clin Cases. May 16, 2021; 9(14): 3273-3286
Published online May 16, 2021. doi: 10.12998/wjcc.v9.i14.3273
Table 1 Results of ATP7B sequencing in patients with Wilson disease with acute liver failure
Patient No.
ATP7B variants
Category of variants
Outcome
1c.314C>A, p.Ser105X2c.3700delG, p.Val1234Leufs*962Biallelic severeLiver transplant
2c.2333G>T, p.Arg778Leu/c.2310C>G, p.Leu770Leu1c.3517G>A, p.Glu1173LysNon-severeLiver transplant
3c.2333G>T, p.Arg778Leu/c.2310C>G, p.Leu770Leu1c.3089Gly>A, p.Gly1030Asp3Non-severeSurvival
4c.2975C>T, p.Pro992Leuc.2975C>T, p.Pro992LeuNon-severeSurvival
5c.994G>T, p.Glu332Xc.1529T>C, p.Leu510Pro3Monoallelic severeSurvival
6c.2455C>T, p.Gln819X3c.1842_1845delins233Biallelic severeSurvival
7c.2975C>T, p.Pro992Leuc.2975C>T, p.Pro992LeuNon-severeSurvival
8c.994G>T, p.Glu332Xc.994G>T, p.Glu332XBiallelic severeSurvival
9c.2621C>T, p.Ala874Val/c.4072delG, p.Ala1358Profs*351,2c.2975C>T, p.Pro992Leu2Monoallelic severeDeath
11c.2333G>T, p.Arg778Leuc.3182G>A, p.Gly1061GluNon-severeSurvival
12c.2333G>T, p.Arg778Leuc.2621C>T, p.Ala874ValNon-severeDeath
13c.2975C>T, p.Por992Leu2c.3443T>C, p.Ile1148Thr2Non-severeSurvival
14c.2333G>T, p.Arg778Leu/c.2310C>G, p.Leu770Leuac.1708-5T>G,Monoallelic severeSurvival
15c.3517G>A, p.Glu1173Lysc.3884C>T, p.Ala1295ValNon-severeLiver transplant
16c.2356-2A>Gc.2333G>T, p.Arg778Leu/c.2310C>G, p.Leu770Leu1Monoallelic severeSurvival
17c.2333G>T, p.Arg778Leu/c.2310C>G, p.Leu770Leu1c.2975C>T, p.Pro992LeuNon-severeSurvival
18c.2333G>T, p.Arg778Leu/c.2310C>G, p.Leu770Leu1c.3809A>G, p.Asn1207SerNon-severeSurvival
21c.2932_2933insG, pVal978Glyfs*502,3c.2333G>T, p.Arg778Leu2Monoallelic severeSurvival
22c.1708-1G>Cc.2333G>T,p.Arg778LeuMonoallelic severeSurvival
23c.1708-1G>Cc.2333G>T,p.Arg778LeuMonoallelic severeSurvival
24c.2528G>A, p.Gly843Glu3c.2975C>T,p.Pro992LeuNon-severeSurvival
25c.2975C>T, p.Pro992Leuc.2975C>T, p.Pro992LeuNon-severeSurvival
26c.2543dupG, p.Asn849Glnfs*52,3c.2924C>A, p.Ser975Tyr2Monoallelic severeSurvival
27c.2333G>T, p.Arg778Leuc.2975C>T, p.Pro992LeuNon-severeSurvival
28c.2975C>T, p.Pro992Leuc.2668G>A, p.Val890MetNon-severeSurvival
29c.2924C>A, p.Ser975Tyrc.2128G>A, p.Gly710SerNon-severeSurvival
30c.2620G>C, p.Ala847Pro2c.2621C>T, p.Ala874Val2Non-severeSurvival
31c.2939G>A, p.Cys980Tyrc.2333G>T, p.Arg778LeuNon-severeSurvival
32c.2719C>T, p.Gln907X4c.2924C>A, p.Ser957Tyr2Non-severeSurvival
34c.1168A>G, p.Ile390Valc.2975C>T, p.Pro992Leu, /c.1708-1G>CNon-severeSurvival
35c.2157>A, p.Tyr719Xc.3452G>A, p.Arg1151HisNon-severeSurvival
38c.2333G>T, p.Arg778Leuc.2333G>T, p.Arg778LeuNon-severeSurvival
39c.314C>A, p.Ser105Xc.2620G>C,p.Asn874ProNon-severeSurvival
40c.2333G>T, p.Arg778Leu/c.2310C>G, p.Leu770Leu1,2c.3809A>G,p.Asn1270Ser2Non-severeSurvival
41c.3836A>G, p.Asp1279Gly2c.2333G>T, p.Arg778Leu2Non-severeSurvival