TABLE 2.
Genotype frequency among different phenotypes (n = 112).
| Variant | Zygosity | Genotype | Phenotype | n (%) | |
|---|---|---|---|---|---|
| SW, n (%) | SV, n (%) | ||||
| I2G | Hetero | I2G/N | 8 (80) | 2 (20) | 10 (8.9) |
| Homo | I2G/I2G | 18 (72) | 7 (28) | 25 (22.3) | |
| I172N | Hetero | I172 N/N | 1 (100) | 0 (0) | 1 (0.9) |
| Homo | I172N/I172N | 0 (0) | 2 (100) | 2 (1.8) | |
| F306+T | Homo | F306 + T/F306 + T | 2 (100) | 0 (0) | 2 (1.8) |
| LGC (1–3 exon) | Hetero | LGC/N | 1 (100) | 0 (0) | 1 (0.9) |
| Homo | LGC/LGC | 3 (100) | 0 (0) | 3 (2.7) | |
| 1–3 exon Del | Homo | Del 1–3/Del 1–3 | 1 (100) | 0 (0) | 1 (0.9) |
| 1–7 exon Del | Homo | Del 1–7/Del 1–7 | 4 (100) | 0 (0) | 4 (3.6) |
| -113 SNP, I2G | Hetero | (-113 SNP, I2G)/N or* -113 SNP/I2G | 1 (100) | 0 (0) | 1 (0.9) |
| Homo | (-113 SNP, I2G)/(-113 SNP, I2G) | 2 (100) | 0 (0) | 2 (1.8) | |
| I2G, 8bp Del | Hetero | (I2G, 8bp Del)/N or* I2G/8bp Del | 2 (100) | 0 (0) | 2 (1.8) |
| I2G, I172N | Hetero | (I2G, I172N)/N or* I2G/I172N | 1 (100) | 0 (0) | 1 (0.9) |
| I2G, E6† | Hetero | (I2G, E6)/N or* I2G/E6 | 2 (100) | 0 (0) | 2 (1.8) |
| I2G, F306+T | Hetero | (I2G, F306 + T)/N or* I2G/F306 + T | 1 (100) | 0 (0) | 1 (0.9) |
| I172N, F306+T | Hetero | (I172N, F306 + T)/N or* I172N/F306 + T | 0 (0) | 1 (100) | 1 (0.9) |
| LGC (1–3 exon), I2G | Hetero | LGC/I2G | 2 (100) | 0 (0) | 2 (1.8) |
| LGC (1–4 exon), I2G | Hetero | LGC/I2G | 1 (100) | 0 (0) | 1 (0.9) |
| 1–3 exon Del, I2G | Hetero | Del 1–3/I2G | 1 (100) | 0 (0) | 1 (0.9) |
| LGC (1–3 exon), 1–3 exon Del | Hetero | LGC/Del 1–3 | 4 (100) | 0 (0) | 4 (3.6) |
| LGC (1–3 exon), 1–7 exon Del | Hetero | LGC/Del 1–7 | 0 (0) | 1 (100) | 1 (0.9) |
| LGC (1–7 exon), 1–7 exon Del | Hetero | LGC/Del 1–7 | 1 (100) | 0 (0) | 1 (0.9) |
| LGC (1–4 exon), 30-KB Del (CH-7) | Hetero | LGC/Del | 1 (100) | 0 (0) | 1 (0.9) |
| 30-KB Del (CH-1) | Homo | Del/Del | 6 (100) | 0 (0) | 6 (5.4) |
| Large gene Del (CAH-X CH-1) | Homo | Dela/Dela | 3 (100) | 0 (0) | 3 (2.7) |
| No identified variant | Homo | N/N | 22 (66.7) | 11 (33.3) | 33 (29.5) |
| Total | 88 | 24 | 112 | ||
LGC, large gene conversion; Del, deletion; N, no identified variant; Homo, homozygous; Hetero, heterozygous; CH-1, chimeric gene produced by 30-KB, Del extending from exon 4 of the CYP21A1P pseudogene to exon 3 of the active CYP21A2 gene; CH-7, chimeric gene produced by 30-KB, Del extending from exon 7 of the CYP21A1P pseudogene to exon 6 of the active CYP21A2 gene; Dela, large gene deletion from the CYP21A2 gene extending to exon 35 of the TNXB gene.
†E6: exon 6 cluster variants (V237E and M239K), SW: salt wasting, SV: simple virilizing.
*Compound heterozygous variants may be in cis or trans configuration and needs further investigations for both parents.