Fanconi anemia causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shyam Patel [2]
Overview
Fanconi anemia an autosomal recessive genetic disorder that is caused by mutations in various genes of the FANC family.
Causes
There are no environmental-related causes of Fanconi anemia. The cause of Fanconi anemia is a genetic mutation in the hematopoietic stem cell. There are at least 13 genes of which mutations are known to cause FA.[1][2][3][4][5] In the past, the genetic cause was unknown, but the advent of DNA sequencing led to the discovery of multiple genes associated with the disease.
Commonly associated genes
- FANCA
- FANCB
- FANCC
- FANCD1 (BRCA2)
- FANCD2
- FANCE
- FANCF
- FANCG
Less commonly associated genes
- FANCI
- FANCJ (BRIP1)
- FANCL
- FANCM
- FANCN (PALB2)
- FANCP (SLX4)
- FANCS (BRCA1)
- RAD51C
- XPF
Mechanism
For an autosomal recessive disorder, both parents must be carriers in order for a child to inherit the condition. If both parents are carriers, there is a 25% risk with each pregnancy for the mother to have an affected child. The carrier frequency in the Ashkenazi Jewish population is about 1/90. Genetic counseling and genetic testing is recommended for families that may be carriers of Fanconi anemia. The presence of a mutation in one of the above genes results in chromosomal instability and ineffective DNA damage response, resulting in the clinical manifestations of the disease.
References
- ↑ Maung KZY, Leo PJ, Bassal M, Casolari DA, Gray JX, Bray SC; et al. (2018). "Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia". Blood Cancer J. 8 (6): 50. doi:10.1038/s41408-018-0090-7. PMC 6002376. PMID 29891941.
- ↑ Velimezi G, Robinson-Garcia L, Muñoz-Martínez F, Wiegant WW, Ferreira da Silva J, Owusu M; et al. (2018). "Map of synthetic rescue interactions for the Fanconi anemia DNA repair pathway identifies USP48". Nat Commun. 9 (1): 2280. doi:10.1038/s41467-018-04649-z. PMC 5996029. PMID 29891926.
- ↑ Castilla-Cortazar I, Aguirre GA, De Ita JR (2018). "About a Suggestive Association Between Fanconi Anemia and Laron Syndrome". Am J Med Sci. 355 (6): 615–616. doi:10.1016/j.amjms.2018.02.004. PMID 29891047.
- ↑ García-de Teresa B, Frias S (2018). "In Reference to Fanconi Anemia and Laron Syndrome". Am J Med Sci. 355 (6): 614–615. doi:10.1016/j.amjms.2018.01.014. PMID 29891046.
- ↑ Douiev L, Saada A (2018). "The pathomechanism of cytochrome c oxidase deficiency includes nuclear DNA damage". Biochim Biophys Acta. doi:10.1016/j.bbabio.2018.06.004. PMID 29886046.