Table 1 Spectrum of CYP21A2 variants in Asian patients and in other ethnic groups
From: Genetic aetiology of primary adrenal insufficiency in Chinese children
Country | Sample | c.293-13C > G (%) | Del (%) | I173N (%) | G111_113VfsX4 (%) | R483PfsX58 (%) | R357W (%) | P31L (%) | Q319X (%) | E6 cluster (%) | V282L (%) | Other (%) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
Croatia [27] | 93 | 34.9 | 18.8 | 11.3 | 2.2 | 0.0 | 16.7 | 5.9 | 4.8 | 2.2 | 0.0 | 3.2 |
Brazil [37] | 480 | 21.1 | 9.0 | 7.5 | 1.8 | 0.0 | 5.4 | 0.6 | 6.1 | 1.2 | 26.6 | 20.7 |
Serbia [42] | 61 | 18.5 | 13.0 | 2.8 | 1.4 | 0.0 | 11.1 | 13.0 | 4.6 | 0.9 | 4.6 | 30.1 |
Argentina [35] | 454 | 20.6 | 11.2 | 8.2 | 0.8 | 1.5 | 4.2 | 0.7 | 6.7 | 2.0 | 26.2 | 19.7 |
UK [41] | 153 | 30.3 | 45.0 | 7.0 | 0.0 | 0.0 | 16.7 | 0.0 | 4.8 | 0.0 | 0.0 | 3.8 |
Tunisia [36] | 50 | 6.0 | 22.0 | 8.0 | 2.0 | 0.0 | 1.0 | 1.0 | 26.0 | 1.0 | 12.0 | 9.0 |
Germany + Austria [50] | 538 | 29.2 | 29.6 | 13.1 | 2.5 | 0.0 | 4.1 | 2.6 | 4.6 | 1.5 | 7.8 | 5.0 |
China [33] | 43 | 20.9 | 8.6 | 36.0 | 1.2 | 0.0 | 2.3 | 7.0 | 7.0 | 2.3 | 4.7 | 10.0 |
China [32] | 230 | 35.0 | 19.6 | 14.3 | 4.3 | 0.0 | 5.9 | 0.2 | 4.6 | 1.3 | 0.2 | 14.6 |
China [31] | 30 | 38.3 | 15.0 | 11.7 | 0.0 | 0.0 | 5.0 | 1.7 | 1.7 | 3.3 | 0.0 | 23.3 |
China [30] | 35 | 27.0 | 27.0 | 17.6 | 1.4 | 0.0 | 9.5 | 0.0 | 5.4 | 1.4 | 1.4 | 9.3 |
China [34] | 166 | 42.5 | 23.8 | 12.7 | 3.0 | 2.1 | 6.0 | 0.0 | 5.1 | 0.9 | 0.0 | 3.9 |
China (this study) | 59 | 31.4 | 18.6 | 17.0 | 5.1 | 4.2 | 3.4 | 1.7 | 0.9 | 0.9 | 0.9 | 16.1 |