WASp mutation and expression in patients with XLT and WAS
Patient . | Exon . | cDNA nucl . | Mutation . | Predicted protein . | Protein expression . | Clinical score . |
|---|---|---|---|---|---|---|
| XLT phenotype | ||||||
| W2 | 1 | 150 | T>C | L39P | Dec | 2 |
| W3 | 1 | 150 | T>C | L39P | Dec | 2 |
| W7 | 2 | 201 | C>T | A56V | Dec | 1 |
| W8 | 3 | 348 | T>C | L105P | Dec | 2 |
| W10 | 2 | 207 | C>G | P58R | Dec | 1 |
| W11 | 2 | 207 | C>G | P58R | Dec | 1 |
| W12 | 7 | 741 | C>G | A236G | Dec | 1 |
| W18 | 2 | 263 | G>C | D77H | Dec | 2 |
| W19 | 11 | 1476 | T>A | I481N | Dec | 1 |
| WAS phenotype | ||||||
| W4 | 7 | 664 | del A | fsX261 | Und | 4 |
| W5 | 7 | +1 int. 7 | G>T | Splicing defect | Und | 5 |
| W9 | 4 | 485-486 | del AG | fsX168 | ND | 5 |
| W13 | 1 | 125 | G>A | E31K | Und | 3 |
| W15 | 4 | 435 | C>T | A134V | Und | 4 |
| W22 | 10 | 1115-1119 | del C | P362X445 | Und | 4 |
Patient . | Exon . | cDNA nucl . | Mutation . | Predicted protein . | Protein expression . | Clinical score . |
|---|---|---|---|---|---|---|
| XLT phenotype | ||||||
| W2 | 1 | 150 | T>C | L39P | Dec | 2 |
| W3 | 1 | 150 | T>C | L39P | Dec | 2 |
| W7 | 2 | 201 | C>T | A56V | Dec | 1 |
| W8 | 3 | 348 | T>C | L105P | Dec | 2 |
| W10 | 2 | 207 | C>G | P58R | Dec | 1 |
| W11 | 2 | 207 | C>G | P58R | Dec | 1 |
| W12 | 7 | 741 | C>G | A236G | Dec | 1 |
| W18 | 2 | 263 | G>C | D77H | Dec | 2 |
| W19 | 11 | 1476 | T>A | I481N | Dec | 1 |
| WAS phenotype | ||||||
| W4 | 7 | 664 | del A | fsX261 | Und | 4 |
| W5 | 7 | +1 int. 7 | G>T | Splicing defect | Und | 5 |
| W9 | 4 | 485-486 | del AG | fsX168 | ND | 5 |
| W13 | 1 | 125 | G>A | E31K | Und | 3 |
| W15 | 4 | 435 | C>T | A134V | Und | 4 |
| W22 | 10 | 1115-1119 | del C | P362X445 | Und | 4 |
Mutations of the WASP gene were identified in all patients through SSCP analysis and polymerase chain reaction (PCR) sequencing.
Protein expression was evaluated using Western blot, immunofluorescence, or cytofluorometric analysis. Clinical score was determined in accordance with Zhu et al.17 nucl indicates nucleotide; Dec, decreased; Und, undetectable; ND, not determined; and int, introne.