Clinical features and mutation characteristics in AMKL and MDS patients with GATA-1 mutations
Patient . | Age . | Sex . | DNA . | Mutation* . | Protein alteration† . |
|---|---|---|---|---|---|
| AMKL 1 | 3 y, 3 mo | M | cDNA | 109-110delAG | Short variant from codon 84 |
| AMKL 2 | 1 y, 2 mo | F | cDNA | 1-239 del 239 bp (no 1st initiation codon) | Short variant from codon 84 |
| AMKL 3 | 2 y, 8 mo | F | cDNA | 1-239 del 239 bp (no 1st initiation codon) | Short variant from codon 84 |
| AMKL 3 | 2 y, 8 mo | F | cDNA | 983 ins 15 bp | 5 codon insertion at codon 291 |
| AMKL 4 | 1 y, 7 mo | M | Genomic DNA | 59insC | Short variant from codon 84 |
| AMKL 5 | 1 y, 9 mo | F | Genomic DNA | 28insC | Short variant from codon 84 |
| AMKL 6 | 1 y, 9 mo | M | Genomic DNA | 208delC | Short variant from codon 84 |
| AMKL 7 | 2 y, 1 mo | F | Genomic DNA | -19 to +40 del 59 bp | Short variant from codon 84 |
| AMKL 8 | 2 y, 0 mo | M | Genomic DNA | 24A>G | Glu2Gly |
| AMKL 9 | 3 y, 0 mo | M | Genomic DNA | 69C>T (Gln 17Stop) | Short variant from codon 84 |
| AMKL 10 | 1 y, 9 mo | M | Genomic DNA | 2nd exon to IVS2 del 465 bp | Short variant from codon 84 |
| AMKL 11 | 2 y, 6 mo | M | cDNA | 208C>G (Tyr63Stop) | Short variant from codon 84 |
| AMKL 12 | 2 y, 2 mo | F | cDNA | 169insT | Short variant from codon 84 |
| AUL 1 | 4 y | M | cDNA | 109insAGGG | Short variant from codon 84 |
| MDS 1 | 3 mo | M | cDNA | 24-25delAG | Short variant from codon 84 |
| MDS 2‡ | 10 mo | F | Genomic DNA | 135delA | Short variant from codon 84 |
Patient . | Age . | Sex . | DNA . | Mutation* . | Protein alteration† . |
|---|---|---|---|---|---|
| AMKL 1 | 3 y, 3 mo | M | cDNA | 109-110delAG | Short variant from codon 84 |
| AMKL 2 | 1 y, 2 mo | F | cDNA | 1-239 del 239 bp (no 1st initiation codon) | Short variant from codon 84 |
| AMKL 3 | 2 y, 8 mo | F | cDNA | 1-239 del 239 bp (no 1st initiation codon) | Short variant from codon 84 |
| AMKL 3 | 2 y, 8 mo | F | cDNA | 983 ins 15 bp | 5 codon insertion at codon 291 |
| AMKL 4 | 1 y, 7 mo | M | Genomic DNA | 59insC | Short variant from codon 84 |
| AMKL 5 | 1 y, 9 mo | F | Genomic DNA | 28insC | Short variant from codon 84 |
| AMKL 6 | 1 y, 9 mo | M | Genomic DNA | 208delC | Short variant from codon 84 |
| AMKL 7 | 2 y, 1 mo | F | Genomic DNA | -19 to +40 del 59 bp | Short variant from codon 84 |
| AMKL 8 | 2 y, 0 mo | M | Genomic DNA | 24A>G | Glu2Gly |
| AMKL 9 | 3 y, 0 mo | M | Genomic DNA | 69C>T (Gln 17Stop) | Short variant from codon 84 |
| AMKL 10 | 1 y, 9 mo | M | Genomic DNA | 2nd exon to IVS2 del 465 bp | Short variant from codon 84 |
| AMKL 11 | 2 y, 6 mo | M | cDNA | 208C>G (Tyr63Stop) | Short variant from codon 84 |
| AMKL 12 | 2 y, 2 mo | F | cDNA | 169insT | Short variant from codon 84 |
| AUL 1 | 4 y | M | cDNA | 109insAGGG | Short variant from codon 84 |
| MDS 1 | 3 mo | M | cDNA | 24-25delAG | Short variant from codon 84 |
| MDS 2‡ | 10 mo | F | Genomic DNA | 135delA | Short variant from codon 84 |
All mutations in the GATA-1 gene were located in the sequences including exon 2. Numbers represent nucleotides from the 5′ end of exon 2.
Each mutation in the GATA-1 gene resulted in expression of abnormal GATA-1 with a defective N-terminal activation domain.
TMD 19 and MDS 2 were samples from the same individual and had an identical deletion.