Fanconi anemia

Definition:

Fanconi anemia (FA), a recessive syndrome with both autosomal and X-linked inheritance, features diverse clinical symptoms, such as progressive bone marrow failures, chromosomal instability and susceptibility to cancer. To date, 13 FA gene products have been identified, which cooperate in a common DNA damage-activated signaling pathway regulating DNA repair (the FA pathway).

References:

[1]. Asuka Hira, et al. Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia. Am J Hum Genet. 2015 Jun 4;96(6):1001-7. [Content Brief]

[2]. Bruna L Freire, et al. Homozygous loss of function BRCA1 variant causing a Fanconi-anemia-like phenotype, a clinical report and review of previous patients. Eur J Med Genet. 2018 Mar;61(3):130-133. [Content Brief]

[3]. Céline Jacquemont, et al. The Fanconi anemia pathway and ubiquitin. BMC Biochem. 2007 Nov 22;8 Suppl 1(Suppl 1):S10. [Content Brief]

[4]. Dominique Bluteau, et al. Biallelic inactivation of REV7 is associated with Fanconi anemia. J Clin Invest. 2016 Sep 1;126(9):3580-4. [Content Brief]

[5]. Fiona Vaz, et al. Mutation of the RAD51C gene in a Fanconi anemia-like disorder. Nat Genet. 2010 May;42(5):406-9. [Content Brief]

[6]. Hanan E Shamseldin, et al. Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation. J Med Genet. 2012 Mar;49(3):184-6. [Content Brief]

[7]. Kerstin Knies, et al. Biallelic mutations in the ubiquitin ligase RFWD3 cause Fanconi anemia. J Clin Invest. 2017 Aug 1;127(8):3013-3027. [Content Brief]

[8]. Martin A Cohn, et al. Chromatin recruitment of DNA repair proteins: lessons from the fanconi anemia and double-strand break repair pathways. Mol Cell. 2008 Nov 7;32(3):306-12. [Content Brief]

[9]. Massimo Bogliolo, et al. Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. Am J Hum Genet. 2013 May 2;92(5):800-6. [Content Brief]

[10]. Meghan A Rego, et al. The Fanconi anemia protein interaction network: casting a wide net. Mutat Res. 2009 Jul 31;668(1-2):27-41. [Content Brief]

[11]. Najim Ameziane, et al. A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51. Nat Commun. 2015 Dec 18;6:8829. [Content Brief]

[12]. Yonghwan Kim, et al. Mutations of the SLX4 gene in Fanconi anemia. Nat Genet. 2011 Feb;43(2):142-6. [Content Brief]

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