WASP hotspot mutations and clinical phenotype
Mutation . | Affected families (no. patients) . | % of total families . | Score 1-2.5*, no. patients . | Score 3-5, no. patients . |
|---|---|---|---|---|
| 168C > T (T45M) | 7 (8†) | (3.1) | 7 | 0 |
| 290C > N/291G > N (R86S/G/C/H/L) | 17 (19) | (7.5) | 19 | 0 |
| IVS6 + 5g > a fs stop aa 190/normal | 6 (10) | (2.6) | 9 | 1 |
| 665C > T (R211X) | 10 (11) | (4.4) | 1 | 10 |
| IVS8 + 1g > a/c/t, fs stop aa246 | 10 (13†) | (4.4) | 5 | 6 |
| Totals | 50 (61) | (22) | 41 | 17 |
Mutation . | Affected families (no. patients) . | % of total families . | Score 1-2.5*, no. patients . | Score 3-5, no. patients . |
|---|---|---|---|---|
| 168C > T (T45M) | 7 (8†) | (3.1) | 7 | 0 |
| 290C > N/291G > N (R86S/G/C/H/L) | 17 (19) | (7.5) | 19 | 0 |
| IVS6 + 5g > a fs stop aa 190/normal | 6 (10) | (2.6) | 9 | 1 |
| 665C > T (R211X) | 10 (11) | (4.4) | 1 | 10 |
| IVS8 + 1g > a/c/t, fs stop aa246 | 10 (13†) | (4.4) | 5 | 6 |
| Totals | 50 (61) | (22) | 41 | 17 |
Three of the hotspot mutations (T45M, R86N, IVS6 + 5g > a) are associated with low scores, and 2 hotspot mutations (R211X, IVS8 + 1g > a) are associated with high scores (ϰ2 = 36.11, 4 df, P < .001). Fisher exact test for r × c tables, P < .001.
A score of 2 to 3 is listed as a score of 2.5; scores 1 to 2.5 are considered XLT; scores of 3 to 5 represent the WAS phenotype.
One patient with the 168C > T missense mutation and 2 patients with the IVS8 + 1g > a spalice site mutation could not be scored because of insufficient clinical data.