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

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

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