Clinical and hematological characteristics of patients with MECOM mutations
| Patient ID . | UB004 . | UB036 . | UB093 . | UB100 . | UB104 . | UB153 . |
|---|---|---|---|---|---|---|
| Nucleic acid change | c.C2248T | c.G2334T | c.G1930T | c.1302_1306del | c.2900_2903del | c.2208-1G>A |
| Amino acid change | p.R750W | p.R778S | p.E644X | p.K434fs | p.D967fs | — |
| Sex | M | F | M | F | F | F |
| Age | 18 mo | 6 mo | 3 mo | Neonatal | 9 mo | 9 mo |
| Family history | Simplex | Simplex | Simplex | Simplex | Simplex | Simplex |
| Hb, g/dL | 5.7 | 6.0 | 6.0 | 9.2 | 5.5 | 8.0 |
| Platelets, × 109/L | 1 | 10 | 10 | 62 | 36 | 10 |
| ANC, × 109/L | 0.35 | 0.06 | 0 | 0 | 0.4 | 0 |
| BM | Hypocellular | Hypocellular | Hypocellular | Hypocellular | Hypocellular | Hypocellular |
| BM karyotype | 46,XY | 46,XX | 46,XY | 46,XX | Trisomy 8 | 46,XX |
| Skeletal abnormality | Radioulnar synostosis | Thumb abnormalities | Clubfoot | No | No | Thumb abnormalities |
| Cardiac abnormality | Tetralogy of Fallot | Myocardial atrophy | Pulmonary stenosis | No | No | No |
| Other | — | — | Facial dysmorphia | — | — | Renal hypoplasia |
| Age at HSCT | 3 y | 6 mo | 15 mo | 9 mo | 18 mo | 3 y |
| Outcome | Died 3 mo after HSCT from a cardiac complication during severe infection | Died at 14 y from a cardiac complication during influenza infection | No major complication 9 y after HSCT (10-y old) | No major complication 1 y after HSCT (2-y old) | No major complication 8 mo after HSCT (2-y old) | No major complication 3 y after a second HSCT (6-y old) |
| Patient ID . | UB004 . | UB036 . | UB093 . | UB100 . | UB104 . | UB153 . |
|---|---|---|---|---|---|---|
| Nucleic acid change | c.C2248T | c.G2334T | c.G1930T | c.1302_1306del | c.2900_2903del | c.2208-1G>A |
| Amino acid change | p.R750W | p.R778S | p.E644X | p.K434fs | p.D967fs | — |
| Sex | M | F | M | F | F | F |
| Age | 18 mo | 6 mo | 3 mo | Neonatal | 9 mo | 9 mo |
| Family history | Simplex | Simplex | Simplex | Simplex | Simplex | Simplex |
| Hb, g/dL | 5.7 | 6.0 | 6.0 | 9.2 | 5.5 | 8.0 |
| Platelets, × 109/L | 1 | 10 | 10 | 62 | 36 | 10 |
| ANC, × 109/L | 0.35 | 0.06 | 0 | 0 | 0.4 | 0 |
| BM | Hypocellular | Hypocellular | Hypocellular | Hypocellular | Hypocellular | Hypocellular |
| BM karyotype | 46,XY | 46,XX | 46,XY | 46,XX | Trisomy 8 | 46,XX |
| Skeletal abnormality | Radioulnar synostosis | Thumb abnormalities | Clubfoot | No | No | Thumb abnormalities |
| Cardiac abnormality | Tetralogy of Fallot | Myocardial atrophy | Pulmonary stenosis | No | No | No |
| Other | — | — | Facial dysmorphia | — | — | Renal hypoplasia |
| Age at HSCT | 3 y | 6 mo | 15 mo | 9 mo | 18 mo | 3 y |
| Outcome | Died 3 mo after HSCT from a cardiac complication during severe infection | Died at 14 y from a cardiac complication during influenza infection | No major complication 9 y after HSCT (10-y old) | No major complication 1 y after HSCT (2-y old) | No major complication 8 mo after HSCT (2-y old) | No major complication 3 y after a second HSCT (6-y old) |
—, Not applicable; ANC, absolute neutrophil count; F, Female; Hb, hemoglobin concentration; HSCT, hematopoietic stem cell transplantation; ID, identifier; M, male.