Genotype phenotype correlation in Wilson’s disease within families-a report on four south Indian families

Table 1 Detailed genotype and phenotype in four families with Wilson’s disease

Family	WD patient	Age at onset(yr)	ATP7B mutation	ATP7B gene polymorphisms	Clinical phenotype	Baseline serum ceruloplasmin5 (U/L)	Baseline urinary copper6 (&mgr;g/24 h)
1	Brother	12	Ex7 11: A2623G	Ex7 2: T1216G	H21
	Sister4	14		Ex7 3: G1366C		8	Not available
	Brother	16		Ex7 12: G2855A		4	430
				Ex7 13: G3009A		13	Not available
2			In8 19: G4021A	Ex7 2: T1216G
				Ex7 3: G1366C
	Brother	14		Ex7 10: T2495C	N13	6.2	166
	Sister	12		Ex7 12: G2855A		1.9	112
				Ex7 13: G3009A
3	Father	45	Ex7 13: A3029G	Ex7 2: T1216G	H21, O2	6	340
	Son4	16		Ex7 10: C2495A	H21	56	983
4	Brother	11	Ex7 15:	Ex7 10: T2495C	H21	32	1067
	Brother4	10	G3282A/?	Ex7 12: G2855A		26	630
	Brother9

H2¹: Hepatic; O²: Other; N1³: Neurological phenotypes of Wilson’s disease;

⁴Asymptomatic subject, WD detected on family screening;

⁵Serum ceruloplasmin: (normal range) 62-140 U/L;

⁶Urine copper: normal upto 150 &mgr;g/24 h;

⁷Ex: denotes Exon; In⁸: Denoted Intron;

⁹Died of liver disease (age of onset of symptoms: 13 years), was not tested for Wilson’s disease.