Table 1 Clinical details, laboratory data and pathogenic variants of the four patients reported in this paper
From: First application of next-generation sequencing in four families with Wilson disease in Morocco
Patient 1 | Patient 2 | Patient 3 | Patient 4 | |
|---|---|---|---|---|
Age at diagnosis (years) | 15 | 15 | 8 | 7 |
Male/Female | Female | Male | Male | Male |
Consanguineous | + | + | − | + |
Jaundice | + | + | − | + |
Hepatomegaly | + | + | + | + |
cirrhosis | + | + | − | − |
Extrapyramidal signs | − | − | − | + |
ALT (< 36U/L) | 127 | 135 | 132 | 168 |
AST (< 45U/L) | 109 | 120 | 91 | 84 |
Serum ceruloplasmin (0.15–0.3 g/L) | < 0.05 g/l | < 0.03 g/l | < 0.03 g/l | < 0.03 g/l |
Serum copper (11–20 μmol/L) | 1.13 | 1.25 | 2.5 | 1.7 |
Urine copper basal (< 50 μg/24 h) | 1266 | 1106 | 960 | 1323 |
Kayser–Fleischer rings | absent | absent | absent | absent |
ATP7B mutation NM_000053 | c.3244-2A>G in exon 15 and c.3664delG (p.Asp1222fs) in exon 17 | c.2507G>A; p.Gly836Glu | c.865C>T (p.Gln289Ter) | c.3059A>G p.Lys1020Arg |
Previous reports | c.3244-2A >G in Italian patient [20] and c.3664delG in Chinese patient [21] | Moroccan patient [20] | High prevalence in Crete | French patient |