Clinical characteristics of the 179 patients
| Characteristic . | Value* . |
|---|---|
| Sex, no. (%) | |
| Male | 96 (53.6) |
| Female | 83 (46.4) |
| Age at skin biopsy, no. (%), y | |
| ≤2 | 37 (20.7) |
| >2 and <18 | 76 (42.5) |
| ≥18 | 66 (36.9) |
| Age of first hematological symptoms, median (range), y | 8 (0-47) |
| Hematological characteristics | |
| Pancytopenia, no./total (%) | 121/177 (68.4) |
| Cytopenia, 1 lineage, no./total (%) | 32/177 (18.1) |
| Cytopenias, 2 lineages, no./total (%) | 24/177 (13.6) |
| Anemia, no./total (%)† | 158/178 (88.8) |
| Hb level, median (range), g/dL | 9.5 (2.5-15) |
| MCV, median (range) | 98 (68-117) |
| Thrombocytopenia, no./total (%), <150 × 109/L | 147/178 (82.6) |
| Platelet count, median (range), × 109/L | 45 (2-500) |
| Neutropenia, no./total (%), <1.5 × 109/L | 138/177 (78.0) |
| Neutrophil count, median (range), × 109/L | 0.87 (0-7) |
| BM dysplasia, no./total (%) | 68/157 (43.3) |
| BM blast cell percentage, no./total (%) | |
| <5% | 154/175 (88.0) |
| ≥5, <10%‡ | 9/175 (5.1) |
| ≥10%‡ | 12/175 (6.9) |
| Abnormal karyotype, no./total (%)§ | 45/161 (28.0) |
| Family history, no./total (%) | 66/173 (38.2) |
| Family history of hematological disorders | 50/173 (28.9) |
| Consanguinity|| | 25/179 (14.0) |
| Physical abnormalities, no./total (%) | 129/176 (73.3) |
| Growth restriction | 77/173 (44.5) |
| Skeletal malformation | 49/172 (28.5) |
| Neurological disorder | 39/172 (22.7) |
| Skin, nail, or hair abnormalities | 40/172 (23.3) |
| Genitourinary disorder | 32/171 (18.7) |
| Cardiac disorder | 15/170 (8.8) |
| Lung disorder | 8/172 (4.7) |
| Liver disorder | 8/173 (4.6) |
| Characteristic . | Value* . |
|---|---|
| Sex, no. (%) | |
| Male | 96 (53.6) |
| Female | 83 (46.4) |
| Age at skin biopsy, no. (%), y | |
| ≤2 | 37 (20.7) |
| >2 and <18 | 76 (42.5) |
| ≥18 | 66 (36.9) |
| Age of first hematological symptoms, median (range), y | 8 (0-47) |
| Hematological characteristics | |
| Pancytopenia, no./total (%) | 121/177 (68.4) |
| Cytopenia, 1 lineage, no./total (%) | 32/177 (18.1) |
| Cytopenias, 2 lineages, no./total (%) | 24/177 (13.6) |
| Anemia, no./total (%)† | 158/178 (88.8) |
| Hb level, median (range), g/dL | 9.5 (2.5-15) |
| MCV, median (range) | 98 (68-117) |
| Thrombocytopenia, no./total (%), <150 × 109/L | 147/178 (82.6) |
| Platelet count, median (range), × 109/L | 45 (2-500) |
| Neutropenia, no./total (%), <1.5 × 109/L | 138/177 (78.0) |
| Neutrophil count, median (range), × 109/L | 0.87 (0-7) |
| BM dysplasia, no./total (%) | 68/157 (43.3) |
| BM blast cell percentage, no./total (%) | |
| <5% | 154/175 (88.0) |
| ≥5, <10%‡ | 9/175 (5.1) |
| ≥10%‡ | 12/175 (6.9) |
| Abnormal karyotype, no./total (%)§ | 45/161 (28.0) |
| Family history, no./total (%) | 66/173 (38.2) |
| Family history of hematological disorders | 50/173 (28.9) |
| Consanguinity|| | 25/179 (14.0) |
| Physical abnormalities, no./total (%) | 129/176 (73.3) |
| Growth restriction | 77/173 (44.5) |
| Skeletal malformation | 49/172 (28.5) |
| Neurological disorder | 39/172 (22.7) |
| Skin, nail, or hair abnormalities | 40/172 (23.3) |
| Genitourinary disorder | 32/171 (18.7) |
| Cardiac disorder | 15/170 (8.8) |
| Lung disorder | 8/172 (4.7) |
| Liver disorder | 8/173 (4.6) |
Hb, hemoglobin; MCV, mean corpuscular volume.
May not total 179 due to missing data in some patients and percentages may not total 100 due to rounding.
Hemoglobin concentration <2 SDs below mean, adjusted for age.
Detailed in supplemental Table 6.
Detailed in supplemental Table 7.
Estimated from the WES data as detailed in “Methods.”