Clinical characteristics and GATA1 mutations of patients with TL and AMKL of Down syndrome
Patient identifier . | Age at diagnosis, d . | Sex . | Age at diagnosis of AMKL . | GATA1 mutation* . | Length of predicted protein, aa† . |
|---|---|---|---|---|---|
| Transient leukemia | |||||
| TL1 | 1 | F | 1 y; survived after treatment of AMKL | 226-272del47 | 330 |
| TL2 | 1 | M | Died on d 16 of CHD | 233-243del11 | 330 |
| TL3 | 1 | M | Died on d 97 of liver disease | 266-267insCAGC | 373 |
| TL4 | 1 | M | NA | 247-270del24 | 365 |
| 270-271insACAG | |||||
| TL6 | 1 | M | NA | 272A>G | 373 |
| 273-274insAGTG | |||||
| 274del1 | |||||
| 278insT | |||||
| TL7 | 5 | M | NA | 273-274insAGCACAGCCAC | 330 |
| TL8 | 52 | M | 2 y, 3 mo | 298-299insT | 372 |
| TL9 | 30 | M | Well until 3 y then lost to follow-up | 150-151del2 | 330 |
| TL12 | 4 | F | NA | 288C>T | 330 |
| 217-218insC | |||||
| AMKL | |||||
| A1 | NA | M | 19 mo | 124-125insT | 330 |
| A2 | NA | M | 8 mo | 144C>A | 363 |
| 255-280del26 | |||||
| A3 (same patient as TL1) | 1 | F | 1 y; survived after treatment of AMKL | 226-272del47 | 330 |
| Cell line | |||||
| HSC-GRW | — | — | — | 262-296del35 | 360 |
Patient identifier . | Age at diagnosis, d . | Sex . | Age at diagnosis of AMKL . | GATA1 mutation* . | Length of predicted protein, aa† . |
|---|---|---|---|---|---|
| Transient leukemia | |||||
| TL1 | 1 | F | 1 y; survived after treatment of AMKL | 226-272del47 | 330 |
| TL2 | 1 | M | Died on d 16 of CHD | 233-243del11 | 330 |
| TL3 | 1 | M | Died on d 97 of liver disease | 266-267insCAGC | 373 |
| TL4 | 1 | M | NA | 247-270del24 | 365 |
| 270-271insACAG | |||||
| TL6 | 1 | M | NA | 272A>G | 373 |
| 273-274insAGTG | |||||
| 274del1 | |||||
| 278insT | |||||
| TL7 | 5 | M | NA | 273-274insAGCACAGCCAC | 330 |
| TL8 | 52 | M | 2 y, 3 mo | 298-299insT | 372 |
| TL9 | 30 | M | Well until 3 y then lost to follow-up | 150-151del2 | 330 |
| TL12 | 4 | F | NA | 288C>T | 330 |
| 217-218insC | |||||
| AMKL | |||||
| A1 | NA | M | 19 mo | 124-125insT | 330 |
| A2 | NA | M | 8 mo | 144C>A | 363 |
| 255-280del26 | |||||
| A3 (same patient as TL1) | 1 | F | 1 y; survived after treatment of AMKL | 226-272del47 | 330 |
| Cell line | |||||
| HSC-GRW | — | — | — | 262-296del35 | 360 |
Mutations result in a shift of the reading frame; mutations result in a premature termination codon; and nucleotide numbers refer to the cDNA sequence of human GATA1 (“Study design”).
Number of amino acids (aa's) encoded by the open reading frame of the mutant GATA1 gene (Figure 1B). We are also characterizing 3 samples TL5, TL10, and TL11 with single point mutations either in exon 2 (TL5: nucleotide 161C>T; TL11: 201C>G of cDNA sequence NM_002049) or in intron 1 (TL10: 10603T> A in genomic sequence AF196971). Mutations in TL5 and TL11 predict a 330-aa truncated protein. These cases with point mutations are phenotypically indistinguishable from the remainder of the cohort. Further analysis is in progress. CHD indicates congenital heart disease; NA, not available; and —, not applicable.