Clinical presentation of individuals with FANCA variant c.3624C>T
| FANCA variant (p.Ser1208=) . | Individual 1 . | Individual 2 . | Individual 3 . | Individual 4 . | Individual 5 . | Individual 6 . |
|---|---|---|---|---|---|---|
| c.3624C>T . | c.3624C>T . | c.3624C>T . | c.3624C>T . | c.3624C>T . | c.3624C>T . | |
| Second FANCA variant | c.1073_1074delTG (p.Tyr357Profs∗49) | Large deletion Exons 31-43∗ | c.1027C>T (p.Gln343∗) | c.2021C>A (p.Ser674∗) | c.1115_1118delTTGG (p.Val372Alafs∗42) | c.2534T>C (p.Leu845Pro) |
| Sex | M | F | F | F | M | M |
| Age (y) at FA diagnosis | 23 | 11 | 18 | 42 | 33 | 63 |
| Chromosome breaks per metaphase at baseline | 0.2 | 0.14 | 0.24 | 0.2 | 0.2 | 0 |
| Chromosome breaks per metaphase after DEB/MMC | 3.6 | 2.2 | 2.1 | 2.3 | 1.06 | 0.1† |
| Clinical presentation | Thrombocytopenia | Anemia | Pneumonia with resistance to antibiotics and hematological abnormalities | Pancytopenia | Gum bleeding, lightheadedness, shortness of breath, nausea, and fatigue | Thrombocytopenia |
| Developmental abnormalities | Hearing loss | Left thumb aplasia/ hypoplasia, axillary freckling, and café-au-lait spots | Left rib fusion and café-au-lait spots | None | Bilateral bifid thumb, and clinodactyly | None |
| Age (y) at onset of hematologic disease | 19 | 12 | 14 | 26 | 33 | 48 |
| Age (y) at BMT | 25 | 21 | No transplantation | 43 | 34 | No transplantation |
| BMT type | No records | Unrelated (7-of-8 matched antigens) | No transplantation | Nonmyeloablative allogeneic (sibling) | Unrelated (8-of-8 matched antigens) | No transplantation |
| Fertile‡ | Yes | Yes | Yes | Yes | Yes | No |
| Cancer history | None | Cervical dysplasia | None | None | Skin squamous cell carcinoma | Melanoma, MDS |
| Vital status | Deceased | Alive | Deceased | Deceased | Alive | Deceased |
| COD | Pulmonary aspergillosis sepsis s/p BMT with failure to engraft | N/A | Official COD unknown; based on predeath complications, COD most likely multiple bacterial blood infections/sepsis | Post-BMT complications (intraparenchymal reperfusion hemorrhage) | N/A | MDS complications |
| Age (y) at last follow-up | 25 | 33 | 26 | 43 | 43 | 66 |
| FANCA variant (p.Ser1208=) . | Individual 1 . | Individual 2 . | Individual 3 . | Individual 4 . | Individual 5 . | Individual 6 . |
|---|---|---|---|---|---|---|
| c.3624C>T . | c.3624C>T . | c.3624C>T . | c.3624C>T . | c.3624C>T . | c.3624C>T . | |
| Second FANCA variant | c.1073_1074delTG (p.Tyr357Profs∗49) | Large deletion Exons 31-43∗ | c.1027C>T (p.Gln343∗) | c.2021C>A (p.Ser674∗) | c.1115_1118delTTGG (p.Val372Alafs∗42) | c.2534T>C (p.Leu845Pro) |
| Sex | M | F | F | F | M | M |
| Age (y) at FA diagnosis | 23 | 11 | 18 | 42 | 33 | 63 |
| Chromosome breaks per metaphase at baseline | 0.2 | 0.14 | 0.24 | 0.2 | 0.2 | 0 |
| Chromosome breaks per metaphase after DEB/MMC | 3.6 | 2.2 | 2.1 | 2.3 | 1.06 | 0.1† |
| Clinical presentation | Thrombocytopenia | Anemia | Pneumonia with resistance to antibiotics and hematological abnormalities | Pancytopenia | Gum bleeding, lightheadedness, shortness of breath, nausea, and fatigue | Thrombocytopenia |
| Developmental abnormalities | Hearing loss | Left thumb aplasia/ hypoplasia, axillary freckling, and café-au-lait spots | Left rib fusion and café-au-lait spots | None | Bilateral bifid thumb, and clinodactyly | None |
| Age (y) at onset of hematologic disease | 19 | 12 | 14 | 26 | 33 | 48 |
| Age (y) at BMT | 25 | 21 | No transplantation | 43 | 34 | No transplantation |
| BMT type | No records | Unrelated (7-of-8 matched antigens) | No transplantation | Nonmyeloablative allogeneic (sibling) | Unrelated (8-of-8 matched antigens) | No transplantation |
| Fertile‡ | Yes | Yes | Yes | Yes | Yes | No |
| Cancer history | None | Cervical dysplasia | None | None | Skin squamous cell carcinoma | Melanoma, MDS |
| Vital status | Deceased | Alive | Deceased | Deceased | Alive | Deceased |
| COD | Pulmonary aspergillosis sepsis s/p BMT with failure to engraft | N/A | Official COD unknown; based on predeath complications, COD most likely multiple bacterial blood infections/sepsis | Post-BMT complications (intraparenchymal reperfusion hemorrhage) | N/A | MDS complications |
| Age (y) at last follow-up | 25 | 33 | 26 | 43 | 43 | 66 |