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. 2011 May 25;19(9):935–941. doi: 10.1038/ejhg.2011.80

Table 1. Clinical presentation and identified mutations.

WD NO Sex Vital status Age at onset (year) Age at diagnosis (year) Diagnostic Delay (months) Year of diagnosis Country of origin Variant 1 Variant 2
FHF
 15 M Alive 30 30 0.2 1993 Denmark p.H1069Q p.G1158V
 20-S M Dead (FHF) 13 13 NA <1966 Denmark p.I1021K p.T1220M
 25 F Alive 21 21 0.2 1991 Denmark p.W779X p.H1069Q
 25-S F Dead (FHF) 16 16 0.2 1990 Denmark p.W779X p.H1069Q
 34 M Alive-TX 12 12 0.2 1994 Denmark p.W779X p.M769V
 43 M Alive-TX 12 12 0.2 2005 Denmark p.W779X p.T977M
 41 F Alive-TX 23 23 0.5 2007 Iceland c.2007_2013delATATGCT c2007_2013delATATGCT,
 44 M Dead (FHF) 9 9 NA 1974 Denmark p.G1266R c.1708-?_1946+?del
 B M Alive-TX 11 11 0.2 1994 Denmark NA NA
 F-S1 F Dead (FHF) 13 13 0.2 1978 Denmark NA NA
                   
Hepatitis+Hemolysis
 9a M Alive 11 11 4 1981 Turkey c.4022-?_4398+?del c.4022-?_4398+?del
 20 M Alive 8 11 36 1966 Denmark p.I1021K T1220M
 24 F Alive 33 34 8 2001 Iceland c2007_2013delATATGCT c2007_2013delATATGCT
 31 M Alive 11 11 2 2003 Denmark p.W779X G943D
 37 F Alive 14 16 24 2004 Denmark p.W779X G1266R
 42 F Alive 15 15 6 1992 Denmark p.H1069Q G1266R
 45 M Alive 16 16 6 2000 Denmark p.P1273 L c.2304insC
                   
CLD
 F F Alive 17 17 NA 1969 Denmark NA NA
 10 M Alive 13 14 13 1994 Pakistan p.L1304F p.L1304F
 11 F Alive 39 39 2 1989 Denmark p.R1041W p.T1220M
 19 M Alive-TX 39 39 NA 1990 Israel p.D642H p.D642H
 22 F Alive 13 13 6 1969 Denmark p.G943D p.S1363F
 32 M Alive 7 7 3 2004 Denmark p.H1069Q p.P1273 L
 38 M Alive 13 13 6 1995 Denmark p.H1069Q p.S1363F
 39 F Alive 9 10 14 2007 Denmark p.I1021K p.H1069Q
 40 M Alive 7 7 2 2007 Denmark p.H1069Q p.H1069Q
 17 M Dead (CLD) 30 32 21 1995 Denmark p.M769V p.G943D
 C M Alive-TX 33 34 14 1989 Denmark NA NA
                   
Neurological symptoms
 6 M Alive 12 12 0 1969 Denmark p.W779X p.W779X
 13 F Alive 23 33 120 1978 Denmark p.T1220M p.Q1351X
 14 M Alive 26 26 4 1979 Denmark p.P1273 L c.4022-2A>G
 16 M Alive 14 14 1 1995 Turkey p.N1270S p.N1270S
 21 F Alive 17 18 13 1987 Denmark p.H1069Q p.S1363F
 23 F Alive 38 38 5 1997 Denmark p.W779X p.R1041W
 26 M Alive 34 35 7 1988 Denmark p.H1069Q p.A1003T
 27 F Alive 10 17 84 1993 Denmark p.H1069Q p.S1363F
 29 F Alive-TX 14 19 60 1994 Turkey p.H1069Q p.G1341D
 33 F Alive 23 24 14 2004 Turkey p.M1169T p.M1169T
 35 M Alive 17 17 6 2004 Korea p.R778 L p.R778 L
 36 M Alive 28 30 27 2004 Serbia p.G591D p.R616Q
 2 M Alive 19 19 NA 1978 Denmark p.T1220M p.G1266R
 6-S M Alive NA 15 NA 1968 Denmark p.W779X p.W779X
 A F Dead-TX (HCC) 27 30 37 1984 Denmark NA NA
 D F Alive 23 29 72 1996   NA NA
 E F Dead (Other) 20 20 NA 1959   NA NA
                   
Identified as asymptomatic siblings who started treatment before symptomatic disease
 2-S F Dead (accident) 17 17 NA 1978 Denmark p.T1220M p.G1266R
 F-S2 M Dead (accident) 20 20 NA NA Denmark NA NA
 F-S3 F Alive 10 10 36 1975 Denmark NA NA
 27-S M Alive 15 15 0 2000 Denmark p.H1069Q p.S1363F

Abbreviations: CLD, chronic liver disease; FHF, fulminant hepatic failure; HCC, hepatocellular carcinoma; NA, Not available; TX, liver transplantation

Patients belonging to the same family have the same number or letter. ‘S' denotes sibling to the first patient diagnosed in the particular family.

a

This patient is described in Møller et al.7, 14 Amino-acid number refers to cDNA numbering where +1 is the ATG translation initiation codon. For nucleotide substitution see Table 2.