From: Genetic aetiology of primary adrenal insufficiency in Chinese children
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 |