Fanconi anemia causes: Difference between revisions

	Fanconi anemia Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Fanconi anemia from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X Ray
CT
MRI
Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Fanconi anemia causes On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Fanconi anemia causes All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Fanconi anemia causes
CDC on Fanconi anemia causes
Fanconi anemia causes in the news
Blogs on Fanconi anemia causes
Directions to Hospitals Treating Fanconi anemia
Risk calculators and risk factors for Fanconi anemia causes

VisualWikitext

Revision as of 15:39, 26 June 2018

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.

[1]

[2]

[3]

[4]

[5]

@@ Line 8: / Line 8: @@
 ==Causes==
-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>
+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>
 === Common Genes ===