Research Article
Molecular Analysis of CYP21A2 Gene Mutations among Iraqi Patients with Congenital Adrenal Hyperplasia
Table 5
Frequency of CYP21A2 mutations according to clinical presentation in 62 Iraqi CAH patients.
| | Mutation type | Number of patients (%) | | SW | SV | NC | Total |
| | Large deletions/conversions | 11 (40.7) | 1 (3.3) | 0 (0.0) | 12 (19.3) | | Q318X | 4 (14.8) | 4 (13.3) | 0 (0.0) | 8 (12.9) | | I2Splice | 5 (18.5) | 3 (10.0) | 0 (0.0) | 8 (12.9) | | I172N | 0 (0.0) | 5 (16.7) | 0 (0.0) | 5 (8.1) | | V281L | 0 (0.0) | 4 (13.3) | 0 (0.0) | 4 (6.4) | | Del 8 bp | 1 (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) | | P453S | 0 (0.0) | 1 (3.3) | 0 (0.0) | 1 (1.6) | | R483P | 0 (0.0) | 1 (3.3) | 0 (0.0) | 1 (1.6) |
| | Total detected mutations | 22 (81.5) | 20 (66.7) | 0 (0.0) | 42 (67.7) |
| | Not detected | 5 (18.5) | 10 (33.3) | 5 (100) | 20 (32.3) |
| | Total | 27 (100) | 30 (100) | 5 (100) | 62 (100) |
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