Table 5.
Homozygous mutations detected in children with Wilson disease in this study
| Mutation | Type of mutation | No. of patients | No. of chromosomes | Form of WD |
|---|---|---|---|---|
| c.507delA, p.Gly170fs* | deletion/frameshift | 1 | 2 | H (CLD) |
| c.1186G > T, p.Glu396X* | Nonsense | 3 | 6 | 2 C (CLD) |
| N | ||||
| c.330delA, p.Gln110fs* | deletion/frameshift | 2 | 4 | C (CLD) |
| c.1646T > C, p.Leu549Pro* | Missense | 1 | 2 | C (CLD) |
| c.1707+5G > A, IVS4+5G > A*1 | Splice | 2 | 4 | 2 C (CLD) |
| c.1924G > C, p.Asp642His | Missense | 1 | 2 | H (CLD) |
| c.2108G > A, p.Cys703Tyr | Missense | 2 | 4 | H (CLD) |
| H (ALF) | ||||
| c.2304dupC, p.Met769fs | insertion/frameshift | 1 | 2 | A |
| c.2293G > A, p.Asp765Asn | Missense | 1 | 2 | H (CLD) |
| c.2532delA, p.Val845fs | deletion/frameshift | 2 | 4 | H (CLD) |
| c.2993G > A, p.Gly998Asp* | Missense | 1 | 2 | Combined |
| c.2930C > T, p.Thr977Met1 | Missense | 2 | 4 | H (CLD) |
| c.2997dupC, p.Gly1000fs | insertion/frameshift | 1 | 2 | H (ALF) |
| c.3207C > A, p.His1069Glu | Missense | 3 | 6 | H (CLD) |
| c.3373_3377delAGTCAinsTCT, p.His1126fs* | deletion-insertion/frameshift | 4 | 8 | H (CLD) |
| c.3620A > G, p.His1207Arg1 | Missense | 1 | 2 | A |
| c.3904-2A > G, IVS18-2A > G | Splice | 4 | 8 | H (ALF) |
| C (CLD) | ||||
| H (CLD) | ||||
| C (CLD) | ||||
| c.3809A > G, p.Asn1270Ser | Missense | 2 | 4 | C (CLD |
| c.3818C > T, p.Pro1273Leu | Missense | 3 | 6 | H (CLD) |
| c.3731delT, p.Leu1244fs* | deletion/frameshift | 1 | 2 | H (ALF) |
| c.3994A > G, p.Asn1332Asp* | Missense | C (CLD) | ||
| c.3955C > T, p.Arg1319X | Nonsense | 3 | 6 | H (ALF) H (CLD) |
| c.4021G > C, p.Gly1341Arg* | Missense | 2 | 4 | H (CLD) |
| c.4022G > A, p.Gly1341Asp | Missense | 1 | 2 | H (CLD) |
| c.4301C > T, p.Thr1434Met | Missense | 1 | 2 | C (CLD) |
| c.4230G > A, p.Trp1410X* | Nonsense | 1 | 2 | H (CLD) |
| c.3734G > T, p.1245L | Missense | 1 | 2 | C (CLD) |
| c.3188C > T, p.Ala1063Val | Missense | 1 | 2 | N |
| H (CLD) | ||||
| c.2049_2053delCCTGGinsTTTC, p.Val683_Leu684delinsVal | deletion-insertion/frameshift | 1 | 2 | H (ALF) |
| c.2332C > G, p.Arg778Gly | Missense | 2 | 4 | H (CLD) |
| c.2450delA, p.Glu817fs | deletion/frameshift | 1 | 2 | C (CLD) |
| IVS20+6T > C | Splice | 1 | 2 | C (CLD) |
| c.2231T > C, p.S744P | Missense | 1 | 2 | H (CLD) |
1Suspected disease causing variants
(*): novel mutations detected in this study
*genbank sequences (NM_000053.2)
A: asymptomatic, H: hepatic, N, neurological, C: combined, AH: acute hepatitis, CLD: chronic liver disease. ALF: acute liver failure