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Fanconi Anemia, X-Linked

MedGen UID:
893549
•Concept ID:
CN239166
•
Disease or Syndrome

Professional guidelines

PubMed

Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing.
Wilson RD, De Bie I, Armour CM, Brown RN, Campagnolo C, Carroll JC, Okun N, Nelson T, Zwingerman R, Audibert F, Brock JA, Brown RN, Campagnolo C, Carroll JC, De Bie I, Johnson JA, Okun N, Pastruck M, Vallée-Pouliot K, Wilson RD, Zwingerman R, Armour C, Chitayat D, De Bie I, Fernandez S, Kim R, Lavoie J, Leonard N, Nelson T, Taylor S, Van Allen M, Van Karnebeek C
J Obstet Gynaecol Can 2016 Aug;38(8):742-762.e3. doi: 10.1016/j.jogc.2016.06.008. PMID: 27638987
Genetic subtyping of Fanconi anemia by comprehensive mutation screening.
Ameziane N, Errami A, Léveillé F, Fontaine C, de Vries Y, van Spaendonk RM, de Winter JP, Pals G, Joenje H
Hum Mutat 2008 Jan;29(1):159-66. doi: 10.1002/humu.20625. PMID: 17924555
Gene therapy for treatment of inherited haematological disorders.
Herzog RW, Cao O, Hagstrom JN, Wang L
Expert Opin Biol Ther 2006 May;6(5):509-22. doi: 10.1517/14712598.6.5.509. PMID: 16610980

Recent clinical studies

Etiology

Post-translational modification of RNA m6A demethylase ALKBH5 regulates ROS-induced DNA damage response.
Yu F, Wei J, Cui X, Yu C, Ni W, Bungert J, Wu L, He C, Qian Z
Nucleic Acids Res 2021 Jun 4;49(10):5779-5797. doi: 10.1093/nar/gkab415. PMID: 34048572Free PMC Article
Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia.
Savage SA, Walsh MF
Hematol Oncol Clin North Am 2018 Aug;32(4):657-668. doi: 10.1016/j.hoc.2018.04.002. PMID: 30047418Free PMC Article
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia.
Mamrak NE, Shimamura A, Howlett NG
Blood Rev 2017 May;31(3):93-99. Epub 2016 Oct 13 doi: 10.1016/j.blre.2016.10.002. PMID: 27760710Free PMC Article
The Fanconi anemia pathway and DNA interstrand cross-link repair.
Su X, Huang J
Protein Cell 2011 Sep;2(9):704-11. Epub 2011 Sep 23 doi: 10.1007/s13238-011-1098-y. PMID: 21948210Free PMC Article
Fanconi anemia.
Green AM, Kupfer GM
Hematol Oncol Clin North Am 2009 Apr;23(2):193-214. doi: 10.1016/j.hoc.2009.01.008. PMID: 19327579Free PMC Article

Diagnosis

Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort.
Chang L, Zhang L, An W, Wan Y, Cai Y, Lan Y, Zhang A, Liu L, Ruan M, Liu X, Guo Y, Yang W, Chen X, Chen Y, Wang S, Zou Y, Yuan W, Zhu X
Clin Chim Acta 2023 Jan 15;539:41-49. Epub 2022 Dec 1 doi: 10.1016/j.cca.2022.11.030. PMID: 36463940
Myelodysplastic Syndrome, Acute Myeloid Leukemia, and Cancer Surveillance in Fanconi Anemia.
Savage SA, Walsh MF
Hematol Oncol Clin North Am 2018 Aug;32(4):657-668. doi: 10.1016/j.hoc.2018.04.002. PMID: 30047418Free PMC Article
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Walsh MF, Chang VY, Kohlmann WK, Scott HS, Cunniff C, Bourdeaut F, Molenaar JJ, Porter CC, Sandlund JT, Plon SE, Wang LL, Savage SA
Clin Cancer Res 2017 Jun 1;23(11):e23-e31. doi: 10.1158/1078-0432.CCR-17-0465. PMID: 28572264Free PMC Article
The Fanconi anemia pathway and DNA interstrand cross-link repair.
Su X, Huang J
Protein Cell 2011 Sep;2(9):704-11. Epub 2011 Sep 23 doi: 10.1007/s13238-011-1098-y. PMID: 21948210Free PMC Article
Fanconi anemia.
Green AM, Kupfer GM
Hematol Oncol Clin North Am 2009 Apr;23(2):193-214. doi: 10.1016/j.hoc.2009.01.008. PMID: 19327579Free PMC Article

Therapy

Successful Outcome With Fludarabine-Based Conditioning Regimen for Hematopoietic Stem Cell Transplantation From Related Donor in Fanconi Anemia: A Single Center Experience From Turkey.
Kuşkonmaz B, Ünal Ş, Bayhan T, Aytaç Eyüboğlu S, Tavil B, Çetin M, Gümrük F, Uçkan Çetinkaya D
Pediatr Blood Cancer 2016 Apr;63(4):695-700. Epub 2015 Dec 24 doi: 10.1002/pbc.25844. PMID: 26703084
Fanconi anemia.
Green AM, Kupfer GM
Hematol Oncol Clin North Am 2009 Apr;23(2):193-214. doi: 10.1016/j.hoc.2009.01.008. PMID: 19327579Free PMC Article
Gene therapy for treatment of inherited haematological disorders.
Herzog RW, Cao O, Hagstrom JN, Wang L
Expert Opin Biol Ther 2006 May;6(5):509-22. doi: 10.1517/14712598.6.5.509. PMID: 16610980
Gene therapy for hereditary hematological disorders.
Herzog RW, Hagstrom JN
Am J Pharmacogenomics 2001;1(2):137-44. doi: 10.2165/00129785-200101020-00006. PMID: 12174674
Gene therapy for genetic haematological disorders and immunodeficiencies.
Kohn DB
J Intern Med 2001 Apr;249(4):379-90. doi: 10.1046/j.1365-2796.2001.00803.x. PMID: 11298858

Prognosis

Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort.
Chang L, Zhang L, An W, Wan Y, Cai Y, Lan Y, Zhang A, Liu L, Ruan M, Liu X, Guo Y, Yang W, Chen X, Chen Y, Wang S, Zou Y, Yuan W, Zhu X
Clin Chim Acta 2023 Jan 15;539:41-49. Epub 2022 Dec 1 doi: 10.1016/j.cca.2022.11.030. PMID: 36463940
Genetic analysis of a Fanconi anemia case revealed the presence of FANCF mutation (exon 1;469>C-T) with implications to develop acute myeloid leukemia.
Behera CK, Gyandeep G, Mishra R, Mohanty RP, Pal A, Behera J, Samal S, Das B
Mol Biol Rep 2023 Jan;50(1):931-936. Epub 2022 Nov 11 doi: 10.1007/s11033-022-08071-z. PMID: 36369330
Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.
Asur RS, Kimble DC, Lach FP, Jung M, Donovan FX, Kamat A, Noonan RJ, Thomas JW, Park M, Chines P, Vlachos A, Auerbach AD, Smogorzewska A, Chandrasekharappa SC
Mol Genet Genomic Med 2018 Jan;6(1):77-91. Epub 2017 Nov 30 doi: 10.1002/mgg3.350. PMID: 29193904Free PMC Article
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.
Chandrasekharappa SC, Chinn SB, Donovan FX, Chowdhury NI, Kamat A, Adeyemo AA, Thomas JW, Vemulapalli M, Hussey CS, Reid HH, Mullikin JC, Wei Q, Sturgis EM
Cancer 2017 Oct 15;123(20):3943-3954. Epub 2017 Jul 5 doi: 10.1002/cncr.30802. PMID: 28678401Free PMC Article
X-linked VACTERL with hydrocephalus syndrome: further delineation of the phenotype caused by FANCB mutations.
McCauley J, Masand N, McGowan R, Rajagopalan S, Hunter A, Michaud JL, Gibson K, Robertson J, Vaz F, Abbs S, Holden ST
Am J Med Genet A 2011 Oct;155A(10):2370-80. Epub 2011 Sep 9 doi: 10.1002/ajmg.a.33913. PMID: 21910217

Clinical prediction guides

The roles of Fanconi anemia genes in the regulation of follicle development.
He Y, Xie MN, Yu L, Ren Z, Zhu F, Fu C
Yi Chuan 2017 Jun 20;39(6):469-481. doi: 10.16288/j.yczz.16-414. PMID: 28903906
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50.
Chandrasekharappa SC, Chinn SB, Donovan FX, Chowdhury NI, Kamat A, Adeyemo AA, Thomas JW, Vemulapalli M, Hussey CS, Reid HH, Mullikin JC, Wei Q, Sturgis EM
Cancer 2017 Oct 15;123(20):3943-3954. Epub 2017 Jul 5 doi: 10.1002/cncr.30802. PMID: 28678401Free PMC Article
Immune reconstitution in patients with Fanconi anemia after allogeneic bone marrow transplantation.
Perlingeiro Beltrame M, Malvezzi M, Bonfim C, Covas DT, Orfao A, Pasquini R
Cytotherapy 2014 Jul;16(7):976-89. Epub 2014 May 13 doi: 10.1016/j.jcyt.2014.02.015. PMID: 24831839
Increased IL10 plasmatic levels in Fanconi anemia patients.
Justo GA, Bitencourt MA, Pasquini R, Castelo-Branco MT, Rumjanek VM
Cytokine 2013 Nov;64(2):486-9. Epub 2013 Sep 7 doi: 10.1016/j.cyto.2013.08.004. PMID: 24021704
The Fanconi anemia pathway limits the severity of mutagenesis.
Hinz JM, Nham PB, Salazar EP, Thompson LH
DNA Repair (Amst) 2006 Aug 13;5(8):875-84. Epub 2006 Jul 11 doi: 10.1016/j.dnarep.2006.05.039. PMID: 16815103

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