Genetic and clinical features of patients enrolled in this study
| ID . | Age (y)* . | Sex . | Gene . | Variant . | Amino acid substitution . | BMF present . | Peripheral blood abnormalities . | Hb (g/dL) . | WBC (×109/L) . | Platelets (×109/L) . | Extra-hematopoietic abnormalities . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4457 | 34 | M | FANCA | c.2167_2169del/c.3349-1G>C | p.Leu723del/p.? | Yes | Leucopenia | 14.4 | 2.9 | 207 | Skin pigmentation and liver abnormalities |
| 4462 | 30 | F | FANCA | c.1226-2A>G/ c.1776 + 5G>C | p.?/p.? | Yes | Leucopenia | 12.6 | 2.4 | 177 | Skin pigmentation abnormalities |
| 4501 | 22 | M | FANCG | c.1158delC | p.Ser387ProfsTer16 | Yes | Leucopenia | 13.5 | 2.7 | 161 | Skin pigmentation abnormalities |
| 4705 | 55 | M | DKC1 | c.1205G>A | p.Gly402Glu | Yes† | High MCV and HbF | 13.6 | 6.2 | 189 | Mucocutaneous abnormalities |
| 4740 | 30 | M | DKC1 | c.1049T>C | p.Met350Thr | Yes | Thrombocytopenia | 14.6 | 7.5 | 84 | Mucocutaneous abnormalities |
| 4702 | 36 | M | DKC1 | c.1058C>T | p.Ala353Val | No | None | 15.1 | 9.3 | 279 | Mucocutaneous abnormalities |
| 4551 | 22 | M | SBDS | c.183_184delins/ c.258 + 2T>C | p.Lys62Ter/ p.Cys84TyrfsTer4 | Yes | Leucopenia, thrombocytopenia | 14.2 | 2.2 | 103 | Short stature, pancreatic insufficiency |
| 4575 | 28 | M | SBDS | c.183_184delins/ c.258 + 2T>C | p.Lys62Ter/ p.Cys84TyrfsTer4 | Yes | Leucopenia, thrombocytopenia | 14.6 | 2.6 | 141 | Short stature, pancreatic insufficiency |
| 4642 | 24 | M | SBDS | c.183_184delins/ c.258 + 2T>C | p.Lys62Ter/ p.Cys84TyrfsTer4 | Yes‡ | Leucopenia, thrombocytopenia | 14.0 | 2.1 | 101 | Osteoporosis, short stature, pancreatic insufficiency, telangiectasia |
| 4504 | 39 | F | UNK/TRI | — | — | Yes | Pancytopenia | 8.3 | 2.6 | 109 | Liver abnormalities |
| 4545 | 47 | M | UNK/TRI | — | — | Yes§ | Pancytopenia | 7.5 | 2.0 | 48 | None |
| 4592 | 26 | F | UNK/TRI | — | — | Yesǁ | Pancytopenia | 7.9 | 2.1 | 9 | Premature birth |
| 4520 | 17 | M | UNK/SNGL | — | — | Yes | Anemia | 10.7 | 6.7 | 410 | Hearing loss, cataract |
| 4633 | 47 | M | UNK/SNGL | — | — | Yes | Leucopenia | 14.2 | 3.5 | 197 | Dysmorphic facies, high-arched palate, unilateral ptosis |
| 4680 | 51 | M | UNK/SNGL | — | — | Yes | Leucopenia | 13.1 | 2.3 | 289 | Numerous pigmented freckles, premature gray hair, nail dystrophy |
| ID . | Age (y)* . | Sex . | Gene . | Variant . | Amino acid substitution . | BMF present . | Peripheral blood abnormalities . | Hb (g/dL) . | WBC (×109/L) . | Platelets (×109/L) . | Extra-hematopoietic abnormalities . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 4457 | 34 | M | FANCA | c.2167_2169del/c.3349-1G>C | p.Leu723del/p.? | Yes | Leucopenia | 14.4 | 2.9 | 207 | Skin pigmentation and liver abnormalities |
| 4462 | 30 | F | FANCA | c.1226-2A>G/ c.1776 + 5G>C | p.?/p.? | Yes | Leucopenia | 12.6 | 2.4 | 177 | Skin pigmentation abnormalities |
| 4501 | 22 | M | FANCG | c.1158delC | p.Ser387ProfsTer16 | Yes | Leucopenia | 13.5 | 2.7 | 161 | Skin pigmentation abnormalities |
| 4705 | 55 | M | DKC1 | c.1205G>A | p.Gly402Glu | Yes† | High MCV and HbF | 13.6 | 6.2 | 189 | Mucocutaneous abnormalities |
| 4740 | 30 | M | DKC1 | c.1049T>C | p.Met350Thr | Yes | Thrombocytopenia | 14.6 | 7.5 | 84 | Mucocutaneous abnormalities |
| 4702 | 36 | M | DKC1 | c.1058C>T | p.Ala353Val | No | None | 15.1 | 9.3 | 279 | Mucocutaneous abnormalities |
| 4551 | 22 | M | SBDS | c.183_184delins/ c.258 + 2T>C | p.Lys62Ter/ p.Cys84TyrfsTer4 | Yes | Leucopenia, thrombocytopenia | 14.2 | 2.2 | 103 | Short stature, pancreatic insufficiency |
| 4575 | 28 | M | SBDS | c.183_184delins/ c.258 + 2T>C | p.Lys62Ter/ p.Cys84TyrfsTer4 | Yes | Leucopenia, thrombocytopenia | 14.6 | 2.6 | 141 | Short stature, pancreatic insufficiency |
| 4642 | 24 | M | SBDS | c.183_184delins/ c.258 + 2T>C | p.Lys62Ter/ p.Cys84TyrfsTer4 | Yes‡ | Leucopenia, thrombocytopenia | 14.0 | 2.1 | 101 | Osteoporosis, short stature, pancreatic insufficiency, telangiectasia |
| 4504 | 39 | F | UNK/TRI | — | — | Yes | Pancytopenia | 8.3 | 2.6 | 109 | Liver abnormalities |
| 4545 | 47 | M | UNK/TRI | — | — | Yes§ | Pancytopenia | 7.5 | 2.0 | 48 | None |
| 4592 | 26 | F | UNK/TRI | — | — | Yesǁ | Pancytopenia | 7.9 | 2.1 | 9 | Premature birth |
| 4520 | 17 | M | UNK/SNGL | — | — | Yes | Anemia | 10.7 | 6.7 | 410 | Hearing loss, cataract |
| 4633 | 47 | M | UNK/SNGL | — | — | Yes | Leucopenia | 14.2 | 3.5 | 197 | Dysmorphic facies, high-arched palate, unilateral ptosis |
| 4680 | 51 | M | UNK/SNGL | — | — | Yes | Leucopenia | 13.1 | 2.3 | 289 | Numerous pigmented freckles, premature gray hair, nail dystrophy |
All patients (except patient 4702) had hypocellular bone marrows. Peripheral blood count values below the normal range are in bold. Full blood counts and lymphocyte subsets within normal ranges are provided in supplemental Table 1.
F, female; Hb, hemoglobin; HbF, fetal hemoglobin; M, male; MCV, mean corpuscular volume; SNGL, single-lineage cytopenia; TRI, trilineage cytopenia; UNK, unknown genetic basis; WBC, white blood cell count.
Age at sampling.
Receiving danazol treatment.
Receiving granulocyte colony-stimulating factor treatment.
Receiving cyclosporin treatment.
Receiving oxymetholone treatment.