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{{Fanconi anemia}} | {{Fanconi anemia}} | ||
{{CMG}} | {{CMG}} {{AE}} {{shyam}} | ||
==Overview== | ==Overview== | ||
Fanconi anemia an [[autosomal recessive]] genetic disorder | Fanconi anemia an [[autosomal recessive]] genetic disorder that is caused by mutations in various genes of the ''FANC'' family. | ||
==Causes== | ==Causes== | ||
There are at least 13 genes of which [[mutations]] are known to cause [[Fanconi anemia|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> | 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 [[Fanconi anemia|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> 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 | * ''FANCB'' | ||
* FANCC | * ''FANCC'' | ||
* FANCD1 (BRCA2) | * ''FANCD1'' (''BRCA2'') | ||
* FANCD2 | * ''FANCD2'' | ||
* FANCE | * ''FANCE'' | ||
* FANCF | * ''FANCF'' | ||
* FANCG | * ''FANCG'' | ||
=== Less | ===Less commonly associated genes=== | ||
* FANCI | * ''FANCI'' | ||
* FANCJ (BRIP1) | * ''FANCJ'' (''BRIP1'') | ||
* FANCL | * ''FANCL'' | ||
* FANCM | * ''FANCM'' | ||
* FANCN (PALB2) | * ''FANCN'' (''PALB2'') | ||
* FANCP (SLX4) | * ''FANCP'' (''SLX4'') | ||
* FANCS (BRCA1) | * ''FANCS'' (''BRCA1'') | ||
* RAD51C | * ''RAD51C'' | ||
* XPF | * ''XPF'' | ||
=== Mechanism === | ===Mechanism=== | ||
For an autosomal recessive disorder, both parents must be carriers in order for a child to inherit the condition. | 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== | ==References== | ||
Latest revision as of 15:20, 27 April 2019
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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.