Table 3.
Frequency of 5 different point mutations found in the three phenotypes of patients with 21-hydroxylase deficiency in the Cuban population
| Point mutations | Clinical forms of CAH | |||
|---|---|---|---|---|
| Salt-wasting | Simple virilizing | Non-classical | Total | |
| Homo Intron 2 | 4 | 2 | – | 6 |
| Homo G318X | 1 | 1 | – | 2 |
| Homo I172N | 1 | – | – | 1 |
| Hetero Intron 2 | 2 | 3 | 1 | 6 |
| Hetero G318X | 4 | 1 | 2 | 7 |
| Hetero I172N | – | – | – | – |
| Homo I172N Hetero Intron 2, p30L and 8pb | 1 | – | – | 1 |
| Homo P30L and 8pb | 1 | – | – | 1 |
| Hetero Intron2p30L and 8pb | 2 | – | – | 2 |
| Homo Intron2 Hetero P30L and 8pb | – | 1 | – | 1 |
| Hetero G318X and I172N | – | 1 | – | 2 |
| Homo Intron2 and Hetero G318X | – | 1 | – | 1 |
| Hetero Intron2 and I172N | – | – | – | – |
| Hetero Intron2 and G318X | – | 1 | – | 1 |
| Hetero Intron2 and 8pb | – | 1 | – | 1 |
| Total | 16 | 12 | 3 | 31 |
Homo Homozygous, Hetero Heterozygous