High frequency of the c.3207C>A (p.H1069Q) mutation in ATP7B gene of Lithuanian patients with hepatic presentation of Wilson’s disease

Table 1 Clinical and genetic characteristics of Lithuanian WD patients

Patient	Gender	Age (yr) at disease diagnosis	Clinical presentation	Kayser-Fleischer ring	Ceruloplasmin lower than 0.2 g/L	Urine cooper (μg/24 h)	Cooper in liver biopsy (μg/g)	Mutation	Outcome
1	F	27	Cirrhosis	Yes	Yes	120	264	[p.His1069Gln] + [p.His1069Gln]	Alive
2	F	18	ALF	No	Yes	144	ND	[p.His1069Gln] + [p.His1069Gln]	Alive
3	M	35	Cirrhosis	Yes	Yes	84	ND	[p.His1069Gln] + [p.His1069Gln]	Alive
4	F	34	ALF, HA	No	No	280	536	[p.His1069Gln] + [p.Arg1041Trp]	Death
5	F	26	Asymptomatic CH	No	Yes	38	35	[p.His1069Gln] + [p.Arg1041Trp]	Alive
6	F	19	ALF, HA	No	No	324	326	[p.His1069Gln] + [c.3472-82 del-GGTTTAACCAT]	Death
7	F	17	Cirrhosis	No	Yes	120	126	[p.His1069Gln] + [c.3472-82 del-GGTTTAACCAT]	Alive
8	F	18	Cirrhosis, FS, HA	No	Yes	182	258	[p.His1069Gln] + [c.3402delC]	Alive
9	M	24	Cirrhosis, NPD	Yes	Yes	116	188	NK/NK	Alive
10	F	23	Cirrhosis	Yes	Yes	130	ND	[p.His1069Gln] + [p.His1069Gln]	Alive
11	F	27	Cirrhosis	Yes	Yes	145	ND	[p.His1069Gln] + [p.His1069Gln]	Alive
12	M	40	Liver steatosis, NPD	Yes	Yes	350	ND	[p.His1069Gln] + [p.His1069Gln]	Alive
13	F	36	Cirrhosis	No	Yes	126	ND	[p.His1069Gln] + NK	Alive

Mutational analysis was performed only for presence of p.H1069Q. 4th and 5th patients were siblings; 6th and 7th patients were siblings. ALF: Acute liver failure; CH: Chronic hepatitis; HA: Hemolytic anaemia (Coombs-negative); FS: Fancony syndrome; NPD: Neuropsychiatric disorder; ND: Not determined; NK: Not known.