A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia
Abstract
Fanconi Anemia (FA) is a rare genetic disease with a mutation in any of 22 FANC genes were known to date. Among all of FANC genes, most frequent mutation has been reported in FANCA gene worldwide responsible for about 60- 65% of all cases. In this case, we present a new missense mutation in FANCA gene in the Iranian population. Accordingly, bruising around the eyes as the first symptom was manifested in an around 10-years-old case, along with lung infection, and pancytopenia while normal serum immunoglobulin levels were also observed.
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12. Solomon PJ, Margaret P, Rajendran R, Ramalingam R, Menezes GA, Shirley AS, et al. A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing. Ital J Pediatr. 2015;41:38.
13. Aslan D, Ameziane N, De Winter JP. Molecular diagnosis of Fanconi anemia with next-generation sequencing in a case with subtle signs and a negative chromosomal breakage test. Turk J Pediatr. 2015;57(3):282-5.
14. Sumpter R, Jr., Sirasanagandla S, Fernandez AF, Wei Y, Dong X, Franco L, et al. Fanconi Anemia Proteins Function in Mitophagy and Immunity. Cell. 2016;165(4):867-81.
15. Río P, Navarro S, Wang W, Sánchez-Domínguez R, Pujol RM, Segovia JC, et al. Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia. Nat Med. 2019;25(9):1396-401.
16. Sumpter R, Jr., Levine B. Emerging functions of the Fanconi anemia pathway at a glance. J Cell Sci. 2017;130(16):2657-62.
17. Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, et al. Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. Am J Hum Genet. 2013;92(5):800-6.
18. Ianzano L, D’Apolito M, Centra M, Savino M, Levran O, Auerbach AD, et al. The genomic organization of the Fanconi anemia group A (FAA) gene. Genomics. 1997;41(3):309-14.
19. Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, et al. A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. Hum Mutat. 2018;39(2):237-54.
2. Auerbach AD. Fanconi anemia and its diagnosis. Mutat Res. 2009;668(1-2):4-10.
3. Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human inborn errors of immunity: 2019 update on the classification from the international union of immunological societies expert committee. J Clin Immunol. 2020;40(1):24-64.
4. de Winter JP, Joenje H. The genetic and molecular basis of Fanconi anemia. Mutat Res-Fund Mol M. 2009;668(1-2):11-9.
5. Auerbach AD, Wolman SR. Susceptibility of Fanconi’s anaemia fibroblasts to chromosome damage by carcinogens. Nature. 1976;261(5560):494-6.
6. Fang CB, Wu HT, Zhang ML, Liu J, Zhang GJ. Fanconi Anemia Pathway: Mechanisms of Breast Cancer Predisposition Development and Potential Therapeutic Targets. Front Cell Dev Biol. 2020;8:160.
7. Su X, Huang J. The Fanconi anemia pathway and DNA interstrand cross-link repair. Protein Cell. 2011;2(9):704-11.
8. Che R, Zhang J, Nepal M, Han B, Fei P. Multifaceted Fanconi anemia signaling. Trends Genet. 2018;34(3):171-83.
9. Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, et al. A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. Hum Mutat. 2018;39(2):237-54.
10. Deng W, Zhao M, Liu Y, Cao L, Yang M. Fanconi anemia in twins with neutropenia: Acase report. Oncol Lett. 2018;16(4):5325-30.
11. Lagundžin D, Hu W-F, Law HC, Krieger KL, Qiao F, Clement EJ, et al. Delineating the role of FANCA in glucose-stimulated insulin secretion in β cells through its protein interactome. PloS one. 2019;14(8).
12. Solomon PJ, Margaret P, Rajendran R, Ramalingam R, Menezes GA, Shirley AS, et al. A case report and literature review of Fanconi Anemia (FA) diagnosed by genetic testing. Ital J Pediatr. 2015;41:38.
13. Aslan D, Ameziane N, De Winter JP. Molecular diagnosis of Fanconi anemia with next-generation sequencing in a case with subtle signs and a negative chromosomal breakage test. Turk J Pediatr. 2015;57(3):282-5.
14. Sumpter R, Jr., Sirasanagandla S, Fernandez AF, Wei Y, Dong X, Franco L, et al. Fanconi Anemia Proteins Function in Mitophagy and Immunity. Cell. 2016;165(4):867-81.
15. Río P, Navarro S, Wang W, Sánchez-Domínguez R, Pujol RM, Segovia JC, et al. Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia. Nat Med. 2019;25(9):1396-401.
16. Sumpter R, Jr., Levine B. Emerging functions of the Fanconi anemia pathway at a glance. J Cell Sci. 2017;130(16):2657-62.
17. Bogliolo M, Schuster B, Stoepker C, Derkunt B, Su Y, Raams A, et al. Mutations in ERCC4, encoding the DNA-repair endonuclease XPF, cause Fanconi anemia. Am J Hum Genet. 2013;92(5):800-6.
18. Ianzano L, D’Apolito M, Centra M, Savino M, Levran O, Auerbach AD, et al. The genomic organization of the Fanconi anemia group A (FAA) gene. Genomics. 1997;41(3):309-14.
19. Kimble DC, Lach FP, Gregg SQ, Donovan FX, Flynn EK, Kamat A, et al. A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families. Hum Mutat. 2018;39(2):237-54.
| Files | ||
| Issue | Vol 3, No 2 (2020) | |
| Section | Case Report | |
| DOI | https://doi.org/10.22034/igj.2020.234109.1040 | |
| Keywords | ||
| Fanconi anemia FANCA lung infection pancytopenia | ||
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This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License. |
How to Cite
1.
Ataei Z, Nazari F. A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia. Immunol Genet J. 2020;3(2):39-45.
