Table 3.
Genotype and phenotype in 213 patients with CAH due to 21-hydroxylase deficiency
| Genotype | Copy 1 | Copy 2 | Copy 3 | Phenotype
|
||
|---|---|---|---|---|---|---|
| SW | SV | NC | ||||
| Group 0 | Deletion or 30-kb deletion | Deletion or 30-kb deletion | 21a | 2 | ||
| Deletion or 30-kb deletion | p.G110Efs, p.V281L | 2 | ||||
| Deletion or 30-kb deletion | p.Q318X | 2 | ||||
| 30-kb deletion | IVS8+ 1G>Ab | 1 | ||||
| 30-kb deletion | p.R426C | 1 | ||||
| Deletion | IVS2-13A/C>G, p.V281L | 3c | ||||
| Deletion | Exon 6 cluster | 1 | ||||
| Deletion | p.R356W | 1 | 1 | |||
| Deletion | p.H365Y | 1 | ||||
| Deletion | p.R444X | 1 | ||||
| Deletion | p.R483P | 1 | ||||
| Deletion | p.Arg483fs | 1 | ||||
| p.G110Efs | p.R356W | 1 | ||||
| p.I172N, exon 6 cluster | p.Leu307fs, p.Q318X | 1 | ||||
| p.I172N, p.G110Efs | 30-kb deletion | p.I172N, exon 6 cluster, p.Leu307fs, IVS2-13A/C>G, p.Q318X | 1 | |||
| p.I172N, exon 6 cluster, p.V281L, p.Leu307fs, p.Q318Xd | p.I172N, exon 6 cluster, p.V281L, p.Leu307fs | 2e | ||||
| Exon 6 cluster | p.Leu307fs, p.Q318X | 1 | ||||
| Group A | IVS2-13A/C>G | Deletion or 30-kb deletion | 34f,g | 3e,g | ||
| IVS2-13A/C>G | 30-kb deletion | p.Q318X | 1 | |||
| IVS2-13A/C>G | IVS2-13A/C>G | 8 | 1 | |||
| IVS2-13A/C>G | IVS2-13A/C>G, p.V281L | 2e | ||||
| IVS2-13A/C>G | IVS2-13A/C>G, p.P453S | 1 | ||||
| IVS2-13A/C>G | p.G110Efs | 1 | ||||
| IVS2-13A/C>G | p.Ser170fs | 1 | ||||
| IVS2-13A/C>G | Exon 6 Clstr | 1 | ||||
| IVS2-13A/C>G | p.Gln262fsb | 1 | ||||
| IVS2-13A/C>G | p.Q318X | 3e | ||||
| IVS2-13A/C>G | p.R356W | 4 | 2 | |||
| IVS2-13A/C>G | p.H365Y | 3e | ||||
| IVS2-13A/C>G | p.W405X | 1 | ||||
| IVS2-13A/C>G | IVS9-1G>Ab | 1 | ||||
| IVS2-13A/C>G | p.Gly424fsb | 1 | ||||
| IVS2-13A/C>G, p.P453S | p.Q318X | 2e | ||||
| Group B | p.l172N | Deletion or 30-kb deletion | 3e,g | 13f,g | ||
| p.l172N | 30-kb deletion | p.I172N, exon 6 cluster, p.V281L, p.Leu307fs | 2 | |||
| p.l172N | IVS2-13A/C>G | 1 | 8 | 1 | ||
| p.l172N | IVS2-13A/C>G, p.V281L | 2e | ||||
| p.l172N | p.I172N | 3 | 1 | |||
| p.l172N | Exon 6 cluster | 1 | ||||
| p.l172N | Exon 6 cluster, p.V281L, p.Leu307fs | IVS2-13A/C>G | 1 | |||
| p.l172N | p.Leu307fs | 1 | ||||
| p.l172N | p.Q318X | 1 | 3 | |||
| p.l172N | p.R356W | 4e | ||||
| p.l172N | p.R483P | 1 | ||||
| p.l77T | Deletion | 1 | ||||
| Group C | p.V281L | Deletion or 30-kb deletion | 9e | |||
| p.V281L | IVS2-13A/C>G | 3 | ||||
| p.V281L | IVS2-13A/C>G, p.V281L | 1 | ||||
| p.V281L | p.I172N | 5e,c | ||||
| p.V281L | p.I172N, p.V281L | 1 | ||||
| p.V281L | p.V281L | 16a,c | ||||
| p.V281L | p.Q318X | 3 | ||||
| p.V281L | p.R356W | 1 | ||||
| p.V281L | p.R426Pd | 1 | ||||
| p.V281L | p.P453S | 1 | ||||
| (Continued) | ||||||