Clinical and hematological characteristics of patients with ERCC6L2 mutations
| Patient ID . | UB657 . | UB008 . | UB075 . | UB196 . | UB083 . | UB134 . | UB168 . |
|---|---|---|---|---|---|---|---|
| Nucleic acid change | c.2187delG c.3708-2A>T | c.2187delG c.3708-2A>T | c.C1504T c.C3796T | c.C1504T c.C3796T | c.C1963T c.C1963T | c.G847A c.G847A | c.C1963T c.C1963T |
| Amino acid change | p.E729fs — | p.E729fs — | p.Q502X p.R1266X | p.Q502X p.R1266X | p.R655X p.R655X | p.D283N p.D283N | p.R655X p.R655X |
| Other causal mutation | — | — | — | — | — | TERC | — |
| Sex | M | F | F | F | M | F | M |
| Age, y | 7 | 13 | 22 | 18 | 2 | 22 | 13 |
| Family history | Brother of UB008 | Sister of UB657 | Sister of UB196 | Sister of UB075 | N/A | Simplex | Consanguinity, brother with intellectual disability |
| Hb, g/dL | 11.4 | <12 | 11.9 | 12.9 | 10.9 | 10.7 | 9.0 |
| Platelets, × 109/L | 64 | <150 | 107 | 101 | 48 | 38 | 4 |
| ANC, × 109/L | <1.5 | <1.5 | 0.4 | 1.6 | 1.0 | 0.1 | 0.7 |
| BM | Hypocellular | Hypocellular | Dysplasia | N/A | Hypocellular | Hypocellular dysplasia | Hypocellular |
| BM karyotype | 46,XX | 46,XX | Monosomy 7 | N/A | 46,XY | 46,XX | 46,XY |
| Microcephaly | No | No | No | No | No | No | Yes |
| Neurological defect | No | No | No | No | No | No | Learning difficulties, intellectual disability, vascular abnormalities in the right frontal lobe (MRI) |
| Other | — | — | — | — | Facial dysmorphia | — | Bilateral pyeloureteral junction abnormalities |
| Age at HSCT, y | 14 | 13 | 22 | — | — | — | — |
| Outcome | No significant complication after HSCT (15-y old) | No significant complication after HSCT (27-y old) | Died at 24 y, of EBV lymphoma post-HSCT | Thrombo-cytopenia and neutropenia (26-y old) | Mild thrombo-cytopenia (15-y old) | Died at 43 y, after AML with −7, hypomethylating agent failure | Stable, macrocytosis without anemia, no neurological signs (21-y old) |
| Patient ID . | UB657 . | UB008 . | UB075 . | UB196 . | UB083 . | UB134 . | UB168 . |
|---|---|---|---|---|---|---|---|
| Nucleic acid change | c.2187delG c.3708-2A>T | c.2187delG c.3708-2A>T | c.C1504T c.C3796T | c.C1504T c.C3796T | c.C1963T c.C1963T | c.G847A c.G847A | c.C1963T c.C1963T |
| Amino acid change | p.E729fs — | p.E729fs — | p.Q502X p.R1266X | p.Q502X p.R1266X | p.R655X p.R655X | p.D283N p.D283N | p.R655X p.R655X |
| Other causal mutation | — | — | — | — | — | TERC | — |
| Sex | M | F | F | F | M | F | M |
| Age, y | 7 | 13 | 22 | 18 | 2 | 22 | 13 |
| Family history | Brother of UB008 | Sister of UB657 | Sister of UB196 | Sister of UB075 | N/A | Simplex | Consanguinity, brother with intellectual disability |
| Hb, g/dL | 11.4 | <12 | 11.9 | 12.9 | 10.9 | 10.7 | 9.0 |
| Platelets, × 109/L | 64 | <150 | 107 | 101 | 48 | 38 | 4 |
| ANC, × 109/L | <1.5 | <1.5 | 0.4 | 1.6 | 1.0 | 0.1 | 0.7 |
| BM | Hypocellular | Hypocellular | Dysplasia | N/A | Hypocellular | Hypocellular dysplasia | Hypocellular |
| BM karyotype | 46,XX | 46,XX | Monosomy 7 | N/A | 46,XY | 46,XX | 46,XY |
| Microcephaly | No | No | No | No | No | No | Yes |
| Neurological defect | No | No | No | No | No | No | Learning difficulties, intellectual disability, vascular abnormalities in the right frontal lobe (MRI) |
| Other | — | — | — | — | Facial dysmorphia | — | Bilateral pyeloureteral junction abnormalities |
| Age at HSCT, y | 14 | 13 | 22 | — | — | — | — |
| Outcome | No significant complication after HSCT (15-y old) | No significant complication after HSCT (27-y old) | Died at 24 y, of EBV lymphoma post-HSCT | Thrombo-cytopenia and neutropenia (26-y old) | Mild thrombo-cytopenia (15-y old) | Died at 43 y, after AML with −7, hypomethylating agent failure | Stable, macrocytosis without anemia, no neurological signs (21-y old) |
—, Not applicable; EBV, Epstein-Barr virus; MRI, magnetic resonance imaging; N/A, not available. Other abbreviations are explained in Table 2.