genetics
Last reviewed 01/2018
The mode of inheritance is autosomal recessive.
Somatic cell fusion analyses led to FA (Fanconi's anaemia) cases being assigned into eight distinct complementation groups, FA-A, FA-B, FA-C, FA-D1, FA-D2, FA-E, FA-F, and FA-G.
FA-A is the most common FA subtype in most populations, accounting for approximately 65% of cases; FA-C and FA-G each account for approximately 10-15% of cases, with the remaining subtypes being rare
| FA group | Gene | Estimated proportion FA patients | Chromosomal location |
| FA-A | FANCA | 66% | 16q24.3 |
| FA-B | poss BRCA2 | <1% | |
| FA-C | FANCC | 12% | 9q22.3 |
| FA-D1 | BRCA2 | <1% | 13q12 |
| FA-D2 | FANCD2 | <1% | 3p25.3 |
| FA-E | FANCE | 4% | 6p21.3 |
| FA-F | FANCF | 4% | 11p15 |
| FA-G | FANCG/XRCC9 | 12% | 9p13 |
Reference:
- Joenje H., Patel K. J. The emerging genetic and molecular basis of Fanconi Anemia. Nat. Rev. Genet., 2: 447-457, 2001.
- Tischkowitz M., Hodgson S. V. Fanconi Anemia. J. Med. Genet., 40: 1-10, 2003.