Table 1.
Summary of clinical features of patients harboring NFE2L2 mutations
| Patients Variant | 1 c.239C > A; p.T80K | 2 c.241G > A; p.G81S | 3 c.91G > A; p.G31R | 4 c.235G > A p.E79K | Reference range |
|---|---|---|---|---|---|
| Inheritance | De novo | De novo | De novo | De novo | |
| Sex | Male | Male | Male | Female | |
| Age (years) | 9 | 13 | 14 | 1.8 | |
| Dystrophy | + | + | + | + | |
| Short stature | − | + | + | NA | |
| Delayed bone age | − | + | + | NA | |
| Muscle weakness | + | − | + | − | |
| Mild developmental delay | + | + | + | + | |
| Learning disability | + | + | + | NA | |
| Chronic headaches | + | + | − | NA | |
| Rec. lung infections | + | + | + | + | |
| Rec. skin infections | + | + | + | − | |
| Heart defects | − | Thickened bicuspid aortic valve | ASD, cardiomyopathy | ASD | |
| Homocysteine | ↓ (2.9 µmol/l) | ND | ↓ (1.6 µmol/l) | ↓ (3 µmol/l) | 5.5–16.2 µmol/l |
| Creatinine | ↓ (16.8 µmol/l) | ↓ (31 µmol/l) | ↓ (26.5 µmol/l) | ↓ (33 µmol/l) | 53–80 µmol/l |
| AST | ↑ (73 U/l) | ↔ (25 U/l) | ↑ (57 U/l)a | ↔ 21(U/l) | 26–55 U/l |
| ALT | ↑ (107 U/l) | ↑ (33 U/l) | ↑ (75 U/l)a | ↔(7 U/l) | 11–30 U/l |
| IGF1 | ↓ | ↓ | ↓ | ND | b |
| GSR | ↑ (19.7 U/g Hb) | ND | ND | ND | 5.0–11.0 U/g Hb |
| G6PD | ↑ (29.4 U/g Hb) | ND | ↑(14.4 U/g Hb) | ND | 7.2–10.5 U/g Hb |
| Immunoglobulin A | ↔ (138 mg/dl) | ↓(47 mg/dl) | ↓ (52 mg/dl) | ↓ (28 mg/dl) | (62–236 mg/dl) |
| Immunoglobulin G | ↔ (1110 mg/dl) | ↓ (541 mg/dl) | ↓ (494 mg/dl) | ↓ (319 mg/dl) | (698–1560 mg/dl) |
| Immunoglobulin M | ↔ (99 mg/dl) | ↓ (21 mg/dl) | ↓ (18 mg/dl) | ↔(130 mg/dl) | (31–179 mg/dl) |
| Switched Memory B-cells | ↓ | ND | ↓(<1/mcL) | ND | |
| Antibody response to Pneumovaxtm | ↓ (positive in 1 of 6 serotypes) | ↓ (positive in 2 of 10 serotypes) | ↓ (positive in 2 of 23 serotypes) | NA | c |
NA not applicable, ND not done, GSR glutathione reductase, G6PD glucose-6-phosphate dehydrogenase
aAST/ALT intermittently elevated; normal at other times
bLaboratory and age specific normal range
cA response to Pneumovaxtm is considered positive if it is >1.3 µg/ml antibody in at least 70% of the serotypes tested