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de novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita

Open Access
|Jun 2022

References

  1. Walne AJ, Marrone A, Dokal I: Dyskeratosis congenita: a disorder of defective telomere maintenance? Int J Hematol 2005; 82:184–189.
  2. Dokal I. Dyskeratosis congenita in all its forms. Br J Haematol. 2000; 110: 768–779.
  3. Bessler M, Wilson DB, Mason PJ. Dyskeratosis congenita. FEBS Lett. 2010; 584: 3831–3838.
  4. Ballew BJ, Savage SA. Updates on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol. 2013; 6: 327–37.
  5. Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in dyskeratosis congenita. Blood. 2009; 113(26): 6549–57.
  6. Heiss NS, Knight SW, Vulliamy T, SM Klauck, S Wiemann, P J Mason et al. X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions. Nat Genet. 1998; 19: 32–38.
  7. Walne AJ, Dokal I: Advances in the understanding of dyskeratosis congenita. Br J Haematol. 2009; 145: 164–172.
  8. Savage SA, Giri N, Baerlocher GM, Orr N, Lansdorp PM, Alter BP: TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita. Am J Hum Genet. 2008; 82: 501–509.
  9. Calado RT (ed): Progress in Molecular Biology and Translational Science, ed 1. Waltham, Academic Press, 2014.
  10. Du HY, Mason PJ, Bessler M, and Wilson DB. Pediatr. Blood Cancer. 2009; 52: 687.
  11. Tsangaris E, Adams SL, Yoon G, Chitayat D, Lansdorp P, Dokal I, and Dror Y. Hum. Genet. 2008; 124: 507–513.
  12. Walne AJ, Vulliamy T, Beswick R, Michael K, Dokal I. TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood. 2008; 112(9): 3594–3600.
  13. Sarper N, Zengin E, Kilic SC. A child with severe form of dyskeratosis congenita and TINF2 mutation of shelterin complex. Pediatr Blood Cancer. 2010; 55(6):1185–1186.
  14. Fukuhara A, Tanino Y, Ishii T, Inokoshi Y, Saito K, Fukuhara N et al. Pulmonary fibrosis in dyskeratosis congenita with TINF2 gene mutation. Eur Respir J. 2013; 42: 1757–1759.
  15. Savage SA. Dyskeratosis Congenita. 2009 Nov 12 [updated 2019 Nov 21]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mirzaa G, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from http://www.ncbi.nlm.nih.gov/books/NBK22301/ Citation on PubMed
  16. Karremann M, Neumaier-Probst E, Schlichtenbrede F, Beier F, Brümmendorf TH, et al. Revesz syndrome revisited. Orphanet J Rare Dis. 2020; 15: 299.
  17. Hongchun D, Yubiao G, Di M, Kejing T, Decheng C, et al. A case report of heterozygous TINF2 gene mutation associated with pulmonary fibrosis in a patient with dyskeratosis congenita. Medicine (Baltimore). 2018; 97(19): e0724.
  18. Vulliamy T, Beswick R, Kirwan MJ, Hossain U, Walne AJ, and Dokal I. Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TINF2. Clin Genet. 2012; 81(1): 76–81.
  19. Sasa GS, Ribes-Zamora A. Nelson ND, Bertuch AA. Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet. 2012; 81(5): 470–8.
  20. Gutierrez-Rodrigues F, Donaires FS, Pinto A, Vicente A, Dillon LW et al. Pathogenic TERT promoter variants in telomere diseases. Genet Med. 2019; 21(7): 1594–1602.
  21. Yang D, He Q, Kim H, Ma W, Songyang Z. TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase. J Biol Chem. 2011; 286 (26): 23022–30.
  22. Li F, Li W, Qiao X, Xie X. Clinical features of dyskeratosis congenita in mainland China: case reports and literature review. Int J Hematol. 2019; 109(3): 328–335.
  23. Pereboeva L, Hubbard M, Goldman FD, Westin ER. Robust DNA Damage Response and Elevated Reactive Oxygen Species in TINF2-Mutated Dyskeratosis Congenita Cells. PLoS One. 2016; 11(2): e0148793.
  24. Nelson ND, Dodson LM, Escudero L, Sukumar AT, Williams CL, Mihalek I, et al. The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation and Dyskeratosis Congenita Cluster-Dependent Fashion. Mol Cell Biol. 2018; 38(12): e00025–18.
  25. Norberg A, Rosén A, Raaschou-Jensen K, Kjeldsen L, Moilanen JS, Paulsson-Karlsson Y, et al. Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. Eur J Hum Genet. 2018; 26(6): 858–867.
  26. Moussa K, Huang JN, Moore AT. Revesz syndrome masquerading as traumatic retinal detachment. J AAPOS. 2017; 21(5): 422–425.
  27. Monoi A, Sugawa M, Kato M, Seki M, Yoshida K, Shiraishi Y, et al. Atypical dyskeratosis congenita diagnosed using whole-exome sequencing. Pediatr Int. 2017; 59(8): 933–935.
  28. Guidugli L, Johnson AK, Alkorta-Aranburu G, Nelakuditi V, Arndt K, Churpek JE, L at all. A Godley, D Townsley, N S Young, C Fitzpatrick, D Del Gaudio, S Das 1, Z Li 1. Clinical utility of gene panel-based testing for hereditary myelodysplastic syndrome/acute leukemia predisposition syndromes. Leukemia. 2017; 31(5): 1226–1229.
  29. Tomcikova D, Gerinec A, Busanyova B, Gresikova M, Biskup S, Kortnagel K. Why is it necessary to examine retina when the patient suffers from aplastic anemia? Bratisl Lek Listy. 2018;119(5): 275–277.
Language: English
Page range: 89 - 93
Published on: Jun 5, 2022
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2022 SA Kocheva, M Gjorgjievska, K Martinova, Z Antevska-Trajkova, A Jovanovska, D Plaseska-Karanfilska, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.