Fanconi anemia causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Fanconi anemia an autosomal recessive genetic disorder..

Causes

There are at least 13 genes of which mutations are known to cause FA.^[1]^[2]^[3]^[4]^[5]

Common Genes

FANCA
FANCB,
FANCC
FANCD1 (BRCA2)
FANCD2,
FANCE,
FANCF
FANCG

Less common

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. Approximately 1,000 persons worldwide presently suffer from the disease. 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.File:Autorecessive.svg

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.

[pmid29891941-1] 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.

[pmid29891926-2] 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.

[pmid29891047-3] 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.

[pmid29891046-4] 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.

[pmid29886046-5] 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.

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