Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease

Table 1 Clinical manifestations of WD patients

Clinical manifestation	Patient No. (%)
Cirrhosis, chronic active hepatitis	66(88)
Enlargement	25(33)
Rigidity, tremor, ataxia, dyskinesia, dysarthria,	24(32)
Behavioral disturbances, psychosis	4(5)
K-F rings	49(65)
Hemolysis, petechia	6(8)
Hematuria, proteinuria	6(8)
Amenorrhea, menoxenia, hairiness	5(7)
Degenerative joint disease	3(4)

Table 2 Genotypes of ATP7B in WD patients

Exon	Mutation	Amino acid	Codon
3	1384del17	His stop	1384 delete 17 bp
7	C656X	Cys → X	1971 C splline
8	R778L	Arg → Leu (CGG → CTG)	2333 G → T
12	G943D	Gly → Asp (GGT → GAT)	2828 G → A
15	V1106I	Val → Ile (GTC → ATC)	3316 G → A
16	V1140A	Val → Ala (GTC → GCC)	3419 T → C
17	V1216M	Val → Met (GTG → ATG)	3646 G → A
	polymorphism
4	IVS4-5T/C		1708-5 t → c
8	L/L770		2310 C → G
10	2495A > G		2495 A → G
18	IVS18 + 6C/T		3903 + 6 c → t
20	IVS20 + 5A/G		4124 + 5 a → g
21	IVS21 + 3		4398 + 3 t → g