Table 1.
Variants of CYP21A2 and clinical classifications
| Genotype | Number of cases | Clinical type | ||
|---|---|---|---|---|
| SW | SV | NC | ||
| Large deletions | 3 | 3 | 0 | 0 |
| IVS2 (a) | 9 | 8 | 1 | 0 |
| I172N (a) | 4 | 1 | 3 | 0 |
| R356W (a) | 3 | 3 | 0 | 0 |
| P30L (a) | 3 | 0 | 2 | 1 |
| Q318X (a) | 3 | 3 | 0 | 0 |
| del8bp (a) | 1 | 0 | 1 | 0 |
| IVS2, Q318X (a) | 1 | 1 | 0 | 0 |
| I172N, E6cluster (a) | 1 | 1 | 0 | 0 |
| P30L, IVS2, del8bp (a) | 3 | 3 | 0 | 0 |
| V281L, Q318X (a) | 1 | 1 | 0 | 0 |
| Q318X, L307fs (a) | 1 | 1 | 0 | 0 |
| Q318X (a), IVS2 (b), del8bp (b) | 1 | 1 | 0 | 0 |
| I172N/V237E+M239K (CH) | 1 | 1 | 0 | 0 |
| I172N/V281L (CH) | 2 | 0 | 1 | 1 |
| IVS2/R356W (CH) | 2 | 1 | 1 | 0 |
| V281L/Q318X (CH) | 2 | 1 | 0 | 1 |
| IVS2/P453S (CH) | 1 | 0 | 1 | 0 |
| Large del/I172N, V237E, M239K | 1 | 1 | 0 | 0 |
| P454S (a), V281L (b), R340H (b) | 1 | 0 | 0 | 1 |
| V281L/ND | 1 | 0 | 1 | 0 |
| IVS2/ND | 1 | 1 | 0 | 0 |
SW: Salt wasting; SV: Simple virilizing; NC: Nonclasiccal; a: Homozygous pattern; b: Heterozygous pattern; CH: Compound heterozygous; ND: Non-determined.