New BMF and overlapping syndromes
| Subtype . | Chromosome location . | Gene product . | Exons . |
|---|---|---|---|
| Recently recognized BMF subtypes | |||
| Autosomal recessive | 9q22.32 | ERCC6L2 | 27 |
| 3q27.1 | TPO/THPO | 7 | |
| 1p32.1 | MYSM1 | 23 | |
| 15q21.1 | DUT | 9 | |
| 19q13.32 | EXOC3L2 | 10 | |
| 17p13.1 | TP53 | 12 | |
| Autosomal dominant | 7q21.3 | SAMD9* | 3 |
| 7q21.2 | SAMD9L* | 6 | |
| 12q13.13 | SP1 | 7 | |
| Familial MDS and leukemia | |||
| Autosomal dominant | 21q22.12 | RUNX1 | 13 |
| 19q13.11 | CEBPA | 1 | |
| 3q26.2 | TERC* | 1 | |
| 5p15.33 | TERT* | 16 | |
| 3q21.3 | GATA2* | 8 | |
| 4q12 | SRP72 | 20 | |
| 10p12.1 | ANKRD26 | 46 | |
| 16q22.1 | ACD/TPP1 | 12 | |
| 12p13.2 | ETV6 | 14 | |
| 5q35.3 | DDX41 | 17 | |
| 20q13.33 | RTEL1 | 35 | |
| 9p13.2 | PAX5 | 11 | |
| 7q21.3 | SAMD9* | 3 | |
| 7q21.2 | SAMD9L* | 6 | |
| 3q26.2 | MECOM* | 23 | |
| 17p13.1 | TP53 | 12 | |
| 12q13.2 | ERBB3 | 28 | |
| 19q13.32 | DHX34 | 21 | |
| Autosomal recessive | 3q21.3 | MBD4 | 8 |
| 3q24 | HLTF | 25 | |
| 3p25.1 | XPC/XPCC | 18 |
| Subtype . | Chromosome location . | Gene product . | Exons . |
|---|---|---|---|
| Recently recognized BMF subtypes | |||
| Autosomal recessive | 9q22.32 | ERCC6L2 | 27 |
| 3q27.1 | TPO/THPO | 7 | |
| 1p32.1 | MYSM1 | 23 | |
| 15q21.1 | DUT | 9 | |
| 19q13.32 | EXOC3L2 | 10 | |
| 17p13.1 | TP53 | 12 | |
| Autosomal dominant | 7q21.3 | SAMD9* | 3 |
| 7q21.2 | SAMD9L* | 6 | |
| 12q13.13 | SP1 | 7 | |
| Familial MDS and leukemia | |||
| Autosomal dominant | 21q22.12 | RUNX1 | 13 |
| 19q13.11 | CEBPA | 1 | |
| 3q26.2 | TERC* | 1 | |
| 5p15.33 | TERT* | 16 | |
| 3q21.3 | GATA2* | 8 | |
| 4q12 | SRP72 | 20 | |
| 10p12.1 | ANKRD26 | 46 | |
| 16q22.1 | ACD/TPP1 | 12 | |
| 12p13.2 | ETV6 | 14 | |
| 5q35.3 | DDX41 | 17 | |
| 20q13.33 | RTEL1 | 35 | |
| 9p13.2 | PAX5 | 11 | |
| 7q21.3 | SAMD9* | 3 | |
| 7q21.2 | SAMD9L* | 6 | |
| 3q26.2 | MECOM* | 23 | |
| 17p13.1 | TP53 | 12 | |
| 12q13.2 | ERBB3 | 28 | |
| 19q13.32 | DHX34 | 21 | |
| Autosomal recessive | 3q21.3 | MBD4 | 8 |
| 3q24 | HLTF | 25 | |
| 3p25.1 | XPC/XPCC | 18 |
Variants in these genes can produce very diverse hematological features, including AA, MDS, and leukemia. They can also produce various extrahematopoietic abnormalities. For example, GATA2 deficiency can be associated with pulmonary alveolar proteinosis and primary lymphedema; SAMD9 disease can be associated with adrenal insufficiency, intrauterine growth restriction, and genital abnormalities; and SAMD9L disease can be associated with neurologic/cerebellar, ophthalmic, and pulmonary complications.