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Table 2 Genotype–phenotype correlations in CAH patients

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    
  1. Del large fragment deletion, E3 Δ8 c.331_339delGAGACTAC, E6 cluster c. [7010T > A;713T > A;719T > A], p. [I237N; V238E; M240K]
  2. aThe positive predictive value for the expected phenotype was not calculated due to the small sample size
  3. bThe positive predictive value for the expected phenotype was not calculated because] enzyme activity was unable to predict novel mutations