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Table 2 Genotype-phenotype correlation in patients heterozygous for the COMMD1 change c.492 GAT/GAC

From: A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient

Features Patient W112 Patient W311
COMMD1 c.492 GAT/GAC (heterozygous) c.492 GAT/GAC (heterozygous)
ATP7B c.2495_2496insG/c.2298_2299insC Not determined
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