Clinical features and mutation characteristics in TMD patients with GATA-1 mutations
Patient . | Age . | Sex . | DNA . | Mutation* . | Protein alteration† . |
|---|---|---|---|---|---|
| TMD 1 | 6 d | F | cDNA | 1-239 del 239 bp (no 1st initiation codon) | Short variant from codon 84 |
| TMD 2 | 8 d | F | cDNA | 1-239 del 239 bp (no 1st initiation codon) | Short variant from codon 84 |
| TMD 3 | 1 d | M | cDNA | 9-52 del 44 bp | Short variant from codon 84 |
| TMD 4 | 9 d | F | cDNA | 109-110delAG | Short variant from codon 84 |
| TMD 5 | 3 d | F | cDNA | 64insC | Short variant from codon 84 |
| TMD 6 | 5 d | M | cDNA | 56G>T (Glu13Stop) | Short variant from codon 84 |
| TMD 7 | 10 d | M | cDNA | 188 ins 22 bp | Short variant from codon 84 |
| TMD 8 | 0 mo | M | cDNA | 208C>A (Tyr63Stop) | Short variant from codon 84 |
| TMD 9 | 4 d | M | cDNA | 20A>G (no start codon) | Short variant from codon 84 |
| TMD 10 | 5 d | F | cDNA | 342-470 del 129 bp | Internal deletion (codon 74 to 119) |
| TMD 11 | 0 d | M | cDNA | 55-56delAG | Short variant from codon 84 |
| TMD 12 | 8 d | F | cDNA | 208C>A (Tyr63Stop) | Short variant from codon 84 |
| TMD 13 | 8 d | M | cDNA | 109-110delAG | Short variant from codon 84 |
| TMD 14 | 4 d | F | cDNA | 206insT | Short variant from codon 84 |
| TMD 15 | 4 d | F | cDNA | 226C>G (Tyr69Stop) | Short variant from codon 84 |
| TMD 16 | 0 d | F | cDNA | 218G>T (Glu67Stop) | Short variant from codon 84 |
| TMD 17 | 0 d | F | cDNA | 68C>T (Gln17Stop) | Short variant from codon 84 |
| TMD 18 | 4 d | M | cDNA | 208C>A (Tyr63Stop) | Short variant from codon 84 |
| TMD 19 | 0 mo | F | Genomic DNA | 135delA | Short variant from codon 84 |
| TMD 20 | 0 d | F | Genomic DNA | IVS1 to IVS2 del 1415 bp | Short variant from codon 84 |
| TMD 20 | 0 d | F | cDNA | 1-239 del 239 bp (no 1st initiation codon) | Short variant from codon 84 |
| TMD 21 | 0 d | F | Genomic DNA | 193 ins 19 bp | Short variant from codon 84 |
Patient . | Age . | Sex . | DNA . | Mutation* . | Protein alteration† . |
|---|---|---|---|---|---|
| TMD 1 | 6 d | F | cDNA | 1-239 del 239 bp (no 1st initiation codon) | Short variant from codon 84 |
| TMD 2 | 8 d | F | cDNA | 1-239 del 239 bp (no 1st initiation codon) | Short variant from codon 84 |
| TMD 3 | 1 d | M | cDNA | 9-52 del 44 bp | Short variant from codon 84 |
| TMD 4 | 9 d | F | cDNA | 109-110delAG | Short variant from codon 84 |
| TMD 5 | 3 d | F | cDNA | 64insC | Short variant from codon 84 |
| TMD 6 | 5 d | M | cDNA | 56G>T (Glu13Stop) | Short variant from codon 84 |
| TMD 7 | 10 d | M | cDNA | 188 ins 22 bp | Short variant from codon 84 |
| TMD 8 | 0 mo | M | cDNA | 208C>A (Tyr63Stop) | Short variant from codon 84 |
| TMD 9 | 4 d | M | cDNA | 20A>G (no start codon) | Short variant from codon 84 |
| TMD 10 | 5 d | F | cDNA | 342-470 del 129 bp | Internal deletion (codon 74 to 119) |
| TMD 11 | 0 d | M | cDNA | 55-56delAG | Short variant from codon 84 |
| TMD 12 | 8 d | F | cDNA | 208C>A (Tyr63Stop) | Short variant from codon 84 |
| TMD 13 | 8 d | M | cDNA | 109-110delAG | Short variant from codon 84 |
| TMD 14 | 4 d | F | cDNA | 206insT | Short variant from codon 84 |
| TMD 15 | 4 d | F | cDNA | 226C>G (Tyr69Stop) | Short variant from codon 84 |
| TMD 16 | 0 d | F | cDNA | 218G>T (Glu67Stop) | Short variant from codon 84 |
| TMD 17 | 0 d | F | cDNA | 68C>T (Gln17Stop) | Short variant from codon 84 |
| TMD 18 | 4 d | M | cDNA | 208C>A (Tyr63Stop) | Short variant from codon 84 |
| TMD 19 | 0 mo | F | Genomic DNA | 135delA | Short variant from codon 84 |
| TMD 20 | 0 d | F | Genomic DNA | IVS1 to IVS2 del 1415 bp | Short variant from codon 84 |
| TMD 20 | 0 d | F | cDNA | 1-239 del 239 bp (no 1st initiation codon) | Short variant from codon 84 |
| TMD 21 | 0 d | F | Genomic DNA | 193 ins 19 bp | Short variant from codon 84 |