Fanconi anemia causes: Difference between revisions
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==Causes== | ==Causes== | ||
There are at least 13 genes of which mutations are known to cause FA. | There are at least 13 genes of which mutations are known to cause FA.<ref name="pmid29891941">{{cite journal| author=Maung KZY, Leo PJ, Bassal M, Casolari DA, Gray JX, Bray SC et al.| title=Rare variants in Fanconi anemia genes are enriched in acute myeloid leukemia. | journal=Blood Cancer J | year= 2018 | volume= 8 | issue= 6 | pages= 50 | pmid=29891941 | doi=10.1038/s41408-018-0090-7 | pmc=6002376 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29891941 }}</ref><ref name="pmid29891926">{{cite journal| author=Velimezi G, Robinson-Garcia L, Muñoz-Martínez F, Wiegant WW, Ferreira da Silva J, Owusu M et al.| title=Map of synthetic rescue interactions for the Fanconi anemia DNA repair pathway identifies USP48. | journal=Nat Commun | year= 2018 | volume= 9 | issue= 1 | pages= 2280 | pmid=29891926 | doi=10.1038/s41467-018-04649-z | pmc=5996029 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29891926 }}</ref><ref name="pmid29891047">{{cite journal| author=Castilla-Cortazar I, Aguirre GA, De Ita JR| title=About a Suggestive Association Between Fanconi Anemia and Laron Syndrome. | journal=Am J Med Sci | year= 2018 | volume= 355 | issue= 6 | pages= 615-616 | pmid=29891047 | doi=10.1016/j.amjms.2018.02.004 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29891047 }}</ref><ref name="pmid29891046">{{cite journal| author=García-de Teresa B, Frias S| title=In Reference to Fanconi Anemia and Laron Syndrome. | journal=Am J Med Sci | year= 2018 | volume= 355 | issue= 6 | pages= 614-615 | pmid=29891046 | doi=10.1016/j.amjms.2018.01.014 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29891046 }}</ref><ref name="pmid29886046">{{cite journal| author=Douiev L, Saada A| title=The pathomechanism of cytochrome c oxidase deficiency includes nuclear DNA damage. | journal=Biochim Biophys Acta | year= 2018 | volume= | issue= | pages= | pmid=29886046 | doi=10.1016/j.bbabio.2018.06.004 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=29886046 }}</ref> | ||
=== Common Genes === | === Common Genes === | ||
FANCA | * FANCA | ||
* FANCB, | |||
FANCB, | * FANCC | ||
* FANCD1 (BRCA2) | |||
FANCC | * FANCD2, | ||
* FANCE, | |||
FANCD1 (BRCA2) | * FANCF | ||
* FANCG | |||
FANCD2, | |||
FANCE, | |||
FANCF | |||
FANCG | |||
=== Less common === | === Less common === | ||
FANCI | * FANCI | ||
* FANCJ (BRIP1) | |||
FANCJ (BRIP1) | * FANCL | ||
* FANCM | |||
FANCL | * FANCN (PALB2) | ||
* FANCP (SLX4) | |||
FANCM | * FANCS (BRCA1) | ||
* RAD51C | |||
FANCN (PALB2) | * XPF. | ||
FANCP (SLX4) | |||
FANCS (BRCA1) | |||
RAD51C | |||
XPF. | |||
=== Mechanism === | === Mechanism === | ||
Revision as of 17:41, 20 June 2018
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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.