Table 1 Summary of clinical features of patients harboring NFE2L2 mutations
From: Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder
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 |
