Table 5: Frequency of CYP21A2 mutations according to clinical presentation in 62 Iraqi CAH patients.

Mutation typeNumber of patients (%)
SWSVNCTotal

Large deletions/conversions11 (40.7)1 (3.3)0 (0.0)12 (19.3)
Q318X4 (14.8)4 (13.3)0 (0.0)8 (12.9)
I2Splice5 (18.5)3 (10.0)0 (0.0)8 (12.9)
I172N0 (0.0)5 (16.7)0 (0.0)5 (8.1)
V281L0 (0.0)4 (13.3)0 (0.0)4 (6.4)
Del 8 bp1 (3.7)0 (0.0)0 (0.0)1 (1.6)
Multiple mutations
(I2Splice, Del 8 bp, Q318X)
1 (3.7)1 (3.3)0 (0.0)2 (3.2)
P453S0 (0.0)1 (3.3)0 (0.0)1 (1.6)
R483P0 (0.0)1 (3.3)0 (0.0)1 (1.6)

Total detected mutations22 (81.5)20 (66.7)0 (0.0)42 (67.7)

Not detected5 (18.5)10 (33.3)5 (100)20 (32.3)

Total27 (100)30 (100)5 (100)62 (100)