- Variant characteristics, clinical presentation, and MLS scores of 13 highly suspected children to have Wilson disease with a single heterozygous deleterious variant.
| Patients’ IDs | Nucleotide change | Codon change | Variant effect | Variant classification | Presentation | MLS | |
|---|---|---|---|---|---|---|---|
| Before NGS | After NGS | ||||||
| 5 | c.3741-3742dupCA | p.Lys1248ThrfsTer83 | Frameshift | Pathogenic | Hepatic | 4 | 5 |
| 6 | c.1745-1746delTA | p.Ile582ArgfsTer25 | Frameshift | Pathogenic | Mixed | 3 | 4 |
| 15 | c.2513delA | p.Lys838SerfsTer35 | Frameshift | Pathogenic | Hepatic | 2 | 3 |
| 16 | c.314C>A | p.Ser105Ter | Stop-gain | Pathogenic | Hepatic | 5 | 6 |
| 17 | c.3895C>T | p.Leu1299phe | Missense | Pathogenic | Hepatic | 4 | 5 |
| 22 | c.3836A>G | p.Asp1279Gly | Missense | Pathogenic/likely pathogenic | Hepatic | 2 | 3 |
| 25 | c.4022G>A | p.Gly1341Asp | Missense | Pathogenic | Mixed | 3 | 4 |
| 27 | c.3263T>A | p.Leu1088Ter | Stop-gain | Pathogenic | Neuropsychiatric | 2 | 3 |
| 29 | c.2606G>A | p.Gly869Glu | Missense | VUS/Likely pathogenic | Hepatic | 3 | 4 |
| 52 | c.2000T>A | p.Leu667Ter | Stop-gain | Pathogenic/likely pathogenic | Hepatic | 4 | 5 |
| 55 | c.3646G>A | p.Val1216Met | Missense | Pathogenic/Likely pathogenic | Asymptomatic | 3 | 4 |
| 56 | c.2532delA | p.Val845SerfsTer28 | Frameshift | Pathogenic | Hepatic | 2 | 3 |
| 57 | c.4022G>A | p.Gly1341Asp | Missense | Pathogenic | Hepatic | 2 | 3 |
ID: identification, MLS: modified Leipzig score, NGS: next-generation sequencing