Fanconi anemia causes
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Fanconi anemia an autosomal recessive genetic disorder that is caused by mutations in various genes of the FANC family.
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. 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
- FANCD1 (BRCA2)
Less commonly associated genes
- FANCJ (BRIP1)
- FANCN (PALB2)
- FANCP (SLX4)
- FANCS (BRCA1)
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.
- 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.
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- 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.