Table 2.
Genotype–phenotype correlations in CAH patients
| Group | Allele 1 | Allele 2 | Phenotype | Positive predictive value for the predicted phenotype (%) | ||
|---|---|---|---|---|---|---|
| SW | SV | NC | ||||
| Group 0 | Del | Del | 5 | 0 | 0 | 100% |
| Del | R483PfsX58 | 1 | 0 | 0 | ||
| Del | R357W | 1 | 0 | 0 | ||
| Del | L308FfsX5-Q319X-R357W | 1 | 0 | 0 | ||
| Del | P31L- c.293-13C > G- E3 Δ8 | 1 | 0 | 0 | ||
| E3 Δ8-Q319X | c.293-13C > G- Q319X | 1 | 0 | 0 | ||
| Q319X | L308FfsX5- Q319X | 1 | 0 | 0 | ||
| R357W | E3 Δ8 | 1 | 0 | 0 | ||
| Group A | c.293-13C > G | c.293-13C > G | 6 | 2 | 0 | 83.3% |
| c.293-13C > G | Del | 5 | 0 | 0 | ||
| c.293-13C > G | E3 Δ8 | 2 | 1 | 0 | ||
| c.293-13C > G | R357W | 2 | 0 | 0 | ||
| c.293-13C > G | R483PfsX58 | 2 | 0 | 0 | ||
| c.293-13C > G | E6 cluster | 1 | 0 | 0 | ||
| c.293-13C > G | c.293-13C > G- E3 Δ8 | 1 | 0 | 0 | ||
| c.293-13C > G- E3 Δ8 | G292S | 0 | 1 | 0 | ||
| c.293-13C > G | c.1223-1G > A | 1 | 0 | 0 | ||
| Group B | I173N | I173N | 0 | 5 | 0 | 84.6% |
| I173N | Del | 0 | 2 | 0 | ||
| I173N | c.293-13C > G | 1 | 1 | 0 | ||
| I173N | E3 Δ8 | 0 | 2 | 0 | ||
| I173N | R483PfsX58 | 0 | 1 | 0 | ||
| I173N | L308FfsX6 | 1 | 0 | 0 | ||
| Group C | V282L | I173N | 0 | 0 | 1 | Not applicablea |
| P31L | Del | 0 | 1 | 0 | ||
| P31L | L308FfsX6 | 0 | 1 | 0 | ||
| Group D | p.279GfsX17 | I173N | 0 | 1 | 0 | Not applicableb |
| c.651 + 2 T > G | c.293-13C > G | 1 | 0 | 0 | ||
| V305M | No pathologic mutations detected | 0 | 0 | 1 | ||
| c.293-13C > G | No pathologic mutations detected | 1 | 0 | 0 | ||
| R483PfsX58 | No pathologic mutations detected | 1 | 0 | 0 | ||
| No pathologic mutations detected | No pathologic mutations detected | 2 | 0 | 0 | ||
| Total | 39 | 18 | 2 | |||
Del large fragment deletion, E3 Δ8 c.331_339delGAGACTAC, E6 cluster c. [7010T > A;713T > A;719T > A], p. [I237N; V238E; M240K]
aThe positive predictive value for the expected phenotype was not calculated due to the small sample size
bThe positive predictive value for the expected phenotype was not calculated because] enzyme activity was unable to predict novel mutations