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

Table 1 Spectrum of mutations in the ATP7B gene of Lebanese patients with Wilson’s disease

Family	ID	Sex	Birth date	AD	Exon	Mutation(s)	Region of protein
U	P1	M	1966	7	7	Gly691Arg	TM2
	P2	M	1985	9	7	Gly691Arg	TM2
	P3	F	1986	131	7	Gly691Arg	TM2
	P4	F	1990	91	7	Gly691Arg	TM2
	P5	M	1996	31	7	Gly691Arg	TM2
	P6	M	NAV	32	7	Gly691Arg	TM2
	P7	M	NAV	72	7	Gly691Arg	TM2
	P8	M	NAV	122	7	Gly691Arg	TM2
	P9	F	NAV	NAV	7	Gly691Arg	TM2
Or	P10	F	1986	21	7/10	Gly691Arg/Val845Ser	TM2/Td
S	P11	F	1993	51	8	2299insC/2299insC	TM4
	P12	M	1973	12	8	2299insC/2299insC	TM4
	P13	F	1997	101	8	2299insC/2299insC	TM4
	P14	M	1980	16	8	2299insC/2299insC	TM4
	P15	M	2007	11	8	2299insC/2299insC	TM4
	P16	M	1981	16	8/13	2299insC/p.Ala1003Thr	TM4/Ch-TM6
	P17	F	1983	14	8/13	2299insC/p.Ala1003Thr	TM4/Ch-TM6
	P18	F	1993	12	8/13	2299insC/p.Ala1003Thr	TM4/Ch-TM6
	P19	F	1989	151	8/13	2299insC/p.Ala1003Thr	TM4/Ch-TM6
Ah	P20	M	1992	15	8	2299insC/2299insC	TM4
T	P21	F	1998	7	12	Trp939Cys	Td
	P22	M	2001	81	12	Trp939Cys	Td
	P23	M	2006	31	12	Trp939Cys	Td
B	P24	M	1992	13	12	Trp939Cys	Td
	P25	M	2002	53	12	Trp939Cys	Td
H	P26	F	1985	18	18	Asn1270Ser	ATP hinge
	P27	F	1987	181	18	Asn1270Ser	ATP hinge
	P28	F	1991	8	18	Asn1270Ser	ATP hinge
Ha	P29	F	1998	14	18	Asn1270Ser	ATP hinge
	P30	F	2002	11	18	Asn1270Ser	ATP hinge
Is	P31	M	1995	13	18	Asn1270Ser	ATP hinge
Z	P32	M	1990	15	18	Pro1273Leu	ATP hinge
	P33	M	2000	61	18	Pro1273Leu	ATP hinge
Ri	P34	M	2009	3	19	Arg1319stop	TM7
Sc	P35	M	1979	22	15/19	Thr1092Met/Arg1319stop	ATP loop/TM7
Gh	P36	M	1970	39	-	None identified	-

¹Screening;

²Died at age;

³Deceased. AD: Age at diagnosis; NAV: Not available.