WASp mutations and expression in patients with WAS and patients with XLT
| Patient . | Exon . | cDNA nucl . | Mutation* . | Predicted protein . | Protein expression† . | Phenotype (clinical score)‡ . |
|---|---|---|---|---|---|---|
| W2 | 1 | 150 | T>C | L39P | Decreased | XLT (2) |
| W3 | 1 | 150 | T>C | L39P | Decreased | XLT (2) |
| W19 | 11 | 1476 | T>A | I481N | Decreased | XLT (1) |
| W28 | 2 | 168 | C>A | T45K | Decreased | XLT (2) |
| W29 | 2 | 257 | G>A | V75M | Decreased | XLT (2) |
| W35 | 11 | 1378-1379 | Del.GG | G449 × 494 | Decreased | XLT (2) |
| W27 | 10 | 1100-1003 | Del C | P356 × 445 | Undetectable | WAS (4) |
| W39§ | 7 | 692 | Del A | K231fs | Undetectable | WAS (4) |
| W40§ | 4 | 361-11_371 | Del ggtatgtgcagGACTGCCAAGC | D121fs | Undetectable | WAS (4) |
| Patient . | Exon . | cDNA nucl . | Mutation* . | Predicted protein . | Protein expression† . | Phenotype (clinical score)‡ . |
|---|---|---|---|---|---|---|
| W2 | 1 | 150 | T>C | L39P | Decreased | XLT (2) |
| W3 | 1 | 150 | T>C | L39P | Decreased | XLT (2) |
| W19 | 11 | 1476 | T>A | I481N | Decreased | XLT (1) |
| W28 | 2 | 168 | C>A | T45K | Decreased | XLT (2) |
| W29 | 2 | 257 | G>A | V75M | Decreased | XLT (2) |
| W35 | 11 | 1378-1379 | Del.GG | G449 × 494 | Decreased | XLT (2) |
| W27 | 10 | 1100-1003 | Del C | P356 × 445 | Undetectable | WAS (4) |
| W39§ | 7 | 692 | Del A | K231fs | Undetectable | WAS (4) |
| W40§ | 4 | 361-11_371 | Del ggtatgtgcagGACTGCCAAGC | D121fs | Undetectable | WAS (4) |
WASp indicates Wiskott-Aldrich syndrome protein; XLT, X-linked thrombocytopenia; nucl, nucleotide; and Del, deletion.
Mutations of WASP gene were identified in all patients by single-strand conformation polymorphism analysis or denaturing high-performance liquid chromatography and polymerase chain reaction sequencing.
Protein expression was evaluated by Western blotting and/or immunofluorescence and cytofluorimetric analysis.
Clinical score was determined according to Zhu et al.4
Nomenclature of mutation as recommended by the Human Genome Variation Society (NM_000377.2).