Table 3 Frequency of 5 different point mutations found in the three phenotypes of patients with 21-hydroxylase deficiency in the Cuban population
From: Molecular diagnosis of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
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 |