Table 2. Summary of major non-haematological features of all 19 patients described in the literature with SCN4 and G6PC3 mutations.
| Features | This paper (n1=4) | Boztug et al3 (n2=12) | Arostegui et al2 (n3=1) | Xia et al4 (n4=2) | Total (n=19) |
|---|---|---|---|---|---|
| Congenital anomalies | |||||
| Cardiac | |||||
| Secundum ASD | 2 | 7 | 1 | 2 | 12 |
| PDA | 2 | 1 | 0 | 0 | 3 |
| Valvular defects | 1 (pulmonary stenosis) | 2 (1 pulmonary stenosis and 1 mitral insufficiency) | 0 | 0 | 3 |
| Others | 0 | 1 (cor triatriatum) | 0 | 1 (coronary aneurysm) | 2 |
| Pulmonary anomaly | 1 (pulmonary hypertension) | 1 (pulmonary venous malformation) | 0 | 0 | 2 |
| Urogenital anomalies | |||||
| Bilateral Cryptorchidism | 1 | 4 | 1 | 0 | 6 |
| Others | 1 (unilateral renal agenesis and hydronephrosis) | 2 (urachal fistula and genital dysplasia) | 0 | 0 | 3 |
| Inguinal hernia | 1 | 1 | 0 | 0 | 2 |
| Cleft palate | 0 | 1 | 0 | 0 | 1 |
| Features of infancy and childhood | |||||
| Prominent venous pattern | 4 | 10 | 1 | NA | 15 |
| Poor growth | 4 | 7 | 1 | NA | 12 |
| Developmental delay/learning difficulties | 4 | NA | 1 | NA | 5 |
| Sensorineural hearing loss | 0 | 2 | 0 | NA | 2 |
| Relative microcephaly | 0 | 2 | 0 | NA | 2 |
| Liver calcifications and/or choledocholithiasis | 1 | 0 | 0 | NA | 1 |
| Features of adolescence and adulthood | |||||
| Varicose veins | 3/3 | NA | NA | NA | 3/3 |
| Delayed/incomplete puberty | 3/3 | NA | NA | NA | 3/3 |
| Sub-clinical hypothyroidism | 2/3 | NA | NA | NA | 2/3 |
| Lipid abnormalities | 1/3 | NA | NA | NA | 1/3 |
| Elevated uric acid | 1/3 | NA | NA | NA | 1/3 |
Abbreviations: ASD, atrial septal defect; n, total number of cases in the series; NA, denotes that the feature was either not applicable because of age or not given or could not be inferred from the given data; PDA, patent ductus arteriosus.