Wilson’s disease in Lebanon and regional countries: Homozygosity and hepatic phenotype predominance

Table 2 Phenotypic and genotypic profiles of Lebanese patients with Wilson’s disease

ID	Mutation(s)	GI manifestation(s)	Neurological manifestations	KF rings	Cp	Urinary Cu	Score
P1	Gly691Arg	Liver cirrhosis	Absent	Present	NAV	718.8	8
P2	Gly691Arg	Liver cirrhosis	Change in school performance	Present	0.11	1998	10
P3	Gly691Arg	Asymptomatic1	Absent	Absent	0.03	148.5	8
P4	Gly691Arg	Asymptomatic1	Absent	Absent	0.22	304	6
P5	Gly691Arg	Asymptomatic1	Absent	Absent	0.02	65.9	7
P6	Gly691Arg	NAV	NAV	NAV	NAV	NAV	4
P7	Gly691Arg	NAV	NAV	NAV	NAV	NAV	4
P8	Gly691Arg	NAV	NAV	NAV	NAV	NAV	4
P9	Gly691Arg	NAV	NAV	NAV	NAV	NAV	4
P10	Gly691Arg/Val845Ser	Liver cirrhosis	Suicidal attempts	Present	0.08	2184	12
P11	2299insC	Asymptomatic	Absent	Absent	0.04	99	7
P12	2299insC	Absent	Slurred speech, ataxia, tremors	Present	0.072	512	12
P13	2299insC	Asymptomatic	Absent	Absent	0.03	152.8	8
P14	2299insC	Absent	Choreoathetosis, tremors, rigidity	Present	0.423	2300	10
P15	2299insC	Asymptomatic	Absent	Absent	0.019	10	6
P16	2299insC/p.Ala1003Thr	Liver cirrhosis	Absent	Present	0.096	775	10
P17	2299insC/p.Ala1003Thr	Liver cirrhosis	Absent	Present	0.096	590	10
P18	2299insC/p.Ala1003Thr	Liver cirrhosis	Absent	Present	0.17	645	9
P19	2299insC/p.Ala1003Thr	Absent	Absent	Present	0.12	487	9
P20	2299insC	Liver cirrhosis	Absent	NAV	0.023	651	8
P21	Trp939Cys	Asymptomatic	Absent	Absent	0.02	77.6	7
P22	Trp939Cys	Asymptomatic	Absent	Absent	0.02	20	6
P23	Trp939Cys	Asymptomatic	Absent	Absent	0.02	41.5	6
P24	Trp939Cys	Liver cirrhosis, ascites	Jaw drooping, hypersalivation, slurred speech, narrow based gait, intention tremors	Present	0.021	744	12
P25	Trp939Cys	Liver cirrhosis, Hepatic encephalopathy, Hepatomegaly, Mild to moderate ascites	Absent	Absent	0.04	NAV	6
P26	Asn1270Ser	Liver cirrhosis	Psychiatric symptoms and suicidal attempts	Present	0.03	27.6	10
P27	Asn1270Ser	Liver cirrhosis	Absent	Present	0.03	65.1	9
P28	Asn1270Ser	Ascites, liver cirrhosis	Absent	Present	0.04	55	9
P29	Asn1270Ser	Transaminitis	Neurodevelopmental	Present	0.078	171	11
P30	Asn1270Ser	Asymptomatic	Absent	Absent	0.03	116	8
P31	Asn1270Ser	Chronic liver parenchymal disease	Dysarthria and left-sided dystonia	Present	0.029	402.3	12
P32	Pro1273Leu	Ascites, Liver cirrhosis, Hepatic encephalopathy	Absent	Present	0.17	1041.1	9
P33	Pro1273Leu	Asymptomatic	Absent	Absent	0.19	89.7	6
P34	Arg1319stop	Asymptomatic	Delay in speech	Absent	0.02	92	8
P35	Thr1092Met/Arg1319stop	Chronic liver disease and early portal hypertension	Clenching of mandible, left side dystonia, sialorrhea, dysarthia, head tremors	Present	0.025	199	12
P36	None identified	Absent	Drooling, dysathria, difficulty concentrating, dysphagia	Present	0.085	NAV	6

¹Developed later. Normal range: Serum ceruloplasmin: 0.2 to 0.6 g/L; Urine copper: 15 to 50 μg/24 h. Score = Ferrenci Score of diagnosis. 2 or less: Very unlikely; 3: Possible, more tests needed; 4 or more: Established[4]. Cp: Ceruloplasmin (g/L); KF: Keiser-Fleischer; NAV: Not available; Urinary Cu: 24-h urine copper (μg/24 h).