Table 2.
Genotype-phenotype correlation in patients heterozygous for the COMMD1 change c.492 GAT/GAC
| Features | Patient W112 | Patient W311 |
|---|---|---|
| GENOTYPIC | ||
| COMMD1 | c.492 GAT/GAC (heterozygous) | c.492 GAT/GAC (heterozygous) |
| ATP7B | c.2495_2496insG/c.2298_2299insC | Not determined |
| PHENOTYPIC | ||
| Age of onset (yrs) | 12 | 12 |
| KF ring | + | + |
| Liver involvement | History of jaundice | Not apparent |
| Ceruloplasmin | 5 mg/dl | 5.5 mg/dl |
| 24 hrs Urinary copper | 98 μg | 170 μg |
| Extrapyramidal features | Dystonia, dysarthia, tremor in upper limbs | |
| Liver function test (albumin:globulin; normal:1.7-1.9) | 0.85 | 1.4 |