A Novel Variant and a Missense Variant Identified in the DKC1 Gene in Three Chinese Familieswith Dyskeratosis Congenita

References

• Dokal I, Vulliamy T, Mason P, Bessler M. Clinical utility gene card for: dyskeratosis congenita - update 2015. Eur J Hum Genet. 2015;23(4):558. doi:10.1038/ejhg.2014.170
   Web of Science ®Google Scholar
• AlSabbagh MM. Dyskeratosis congenita: a literature review. J Dtsch Dermatol Ges. 2020;18(9):943–967. doi:10.1111/ddg.14268
   Web of Science ®Google Scholar
• 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. doi:10.1007/s12185-018-02582-x
   PubMed Web of Science ®Google Scholar
• Niewisch MR, Savage SA. An update on the biology and management of dyskeratosis congenita and related telomere biology disorders. Expert Rev Hematol. 2019;12(12):1037–1052. doi:10.1080/17474086.2019.1662720
   PubMed Web of Science ®Google Scholar
• Savage SA, Dokal I, Armanios M, et al. Dyskeratosis congenita: the first NIH clinical research workshop. Pediatr Blood Cancer. 2009;53(3):520–523. doi:10.1002/pbc.22061
   PubMedGoogle Scholar
• Ding YG, Zhu TS, Jiang W, et al. Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with dyskeratosis congenita. J Invest Dermatol. 2004;123(3):470–473. doi:10.1111/j.0022-202X.2004.23228.x
   PubMed Web of Science ®Google Scholar
• Kelmenson DA, Hanley M. Dyskeratosis congenita. N Engl J Med. 2017;376(15):1460. doi:10.1056/NEJMicm1613081
   PubMed Web of Science ®Google Scholar
• Stoopler ET, Shanti RM. Dyskeratosis congenita. Mayo Clin Proc. 2019;94(9):1668–1669. doi:10.1016/j.mayocp.2019.04.032
   PubMed Web of Science ®Google Scholar
• Otoshi R, Baba T, Shintani R, et al. Diverse pathological findings of interstitial lung disease in a patient with dyskeratosis congenita. Intern Med. 2021;60(8):1257–1263. doi:10.2169/internalmedicine.5143-20
   PubMed Web of Science ®Google Scholar
• Fernández García MS, Teruya-Feldstein J. The diagnosis and treatment of dyskeratosis congenita: a review. J Blood Med. 2014;5:157–167. doi:10.2147/JBM.S47437
   PubMedGoogle Scholar
• Bongiorno M, Rivard S, Hammer D, Kentosh J. Malignant transformation of oral leukoplakia in a patient with dyskeratosis congenita. Oral Surg Oral Med Oral Pathol Oral Radiol. 2017;124(4):e239–e242. doi:10.1016/j.oooo.2017.08.001
   PubMed Web of Science ®Google Scholar
• Liu AQ, Deane EC, Prisman E, Durham JS. Dyskeratosis congenita and squamous cell cancer of the head and neck: a case report and systematic review [published online ahead of print, 2021 Oct 15]. Ann Otol Rhinol Laryngol. 2021;34894211047470. doi:10.1177/00034894211047470
   Web of Science ®Google Scholar
• Alter BP, Giri N, Savage SA, Rosenberg PS. Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica. 2018;103(1):30–39. doi:10.3324/haematol.2017.178111
   PubMed Web of Science ®Google Scholar
• Ward SC, Savage SA, Giri N, et al. Beyond the triad: inheritance, mucocutaneous phenotype, and mortality in a cohort of patients with dyskeratosis congenita. J Am Acad Dermatol. 2018;78(4):804–806. doi:10.1016/j.jaad.2017.10.017
   PubMed Web of Science ®Google Scholar
• Okal I. Dyskeratosis congenita. Hematology Am Soc Hematol Educ Program. 2011;2011:480–486. doi:10.1182/asheducation-2011.1.480
   PubMed Web of Science ®Google Scholar
• Allenspach EJ, Bellodi C, Jeong D, et al. Common variable immunodeficiency as the initial presentation of dyskeratosis congenita. J Allergy Clin Immunol. 2013;132(1):223–226. doi:10.1016/j.jaci.2012.11.052
   PubMed Web of Science ®Google Scholar
• Gardos G, Cole JO. Maintenance antipsychotic therapy: is the cure worse than the disease? Am J Psychiatry. 1976;133(1):32–36. doi:10.1176/ajp.133.1.32
   PubMed Web of Science ®Google Scholar
• Dvorak LA, Vassallo R, Kirmani S, et al. Pulmonary fibrosis in dyskeratosis congenita: report of 2 cases. Hum Pathol. 2015;46(1):147–152. doi:10.1016/j.humpath.2014.10.003
   PubMed Web of Science ®Google Scholar
• Olivieri C, Mondino A, Chinello M, et al. Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins. Pediatr Rep. 2017;9(3):7301. doi:10.4081/pr.2017.7301
   PubMed Web of Science ®Google Scholar
• Alter BP, Rosenberg PS, Giri N, Baerlocher GM, Lansdorp PM, Savage SA. Telomere length is associated with disease severity and declines with age in dyskeratosis congenita. Haematologica. 2012;97(3):353–359. doi:10.3324/haematol.2011.055269
   PubMed Web of Science ®Google Scholar
• Xu J, Khincha PP, Giri N, Alter BP, Savage SA, Wong JM. Investigation of chromosome X inactivation and clinical phenotypes in female carriers of DKC1 mutations. Am J Hematol. 2016;91(12):1215–1220. doi:10.1002/ajh.24545
   PubMed Web of Science ®Google Scholar
• Garus A, Autexier C. Dyskerin: an essential pseudouridine synthase with multifaceted roles in ribosome biogenesis, splicing, and telomere maintenance. RNA. 2021;27(12):1441–1458. doi:10.1261/rna.078953.121
   PubMedGoogle Scholar
• Cerrudo CS, Mengual Gómez DL, Gómez DE, Ghiringhelli PD. Novel insights into the evolution and structural characterization of dyskerin using comprehensive bioinformatics analysis. J Proteome Res. 2015;14(2):874–887. doi:10.1021/pr500956k
   PubMed Web of Science ®Google Scholar
• Zhao XY, Zhong WL, Zhang J, Ma G, Hu H, Yu B. Dyskeratosis congenita with DKC1 mutation: a case report. Indian J Dermatol. 2020;65(5):426–427. doi:10.4103/ijd.IJD_716_18
   PubMed Web of Science ®Google Scholar
• Ratnasamy V, Navaneethakrishnan S, Sirisena ND, et al. Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report. BMC Med Genet. 2018;19(1):85. doi:10.1186/s12881-018-0584-y
   PubMed Web of Science ®Google Scholar
• Marrone A, Mason PJ. Dyskeratosis congenita. Cell Mol Life Sci. 2003;60(3):507–517. doi:10.1007/s000180300042
   PubMed Web of Science ®Google Scholar
• Vulliamy TJ, Marrone A, Knight SW, Walne A, Mason PJ, Dokal I. Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation. Blood. 2006;107(7):2680–2685. doi:10.1182/blood-2005-07-2622
   PubMed Web of Science ®Google Scholar
• Gu BW, Apicella M, Mills J, et al. Impaired telomere maintenance and decreased canonical WNT signaling but normal ribosome biogenesis in induced pluripotent stem cells from X-linked dyskeratosis congenita patients. PLoS One. 2015;10(5):e0127414. doi:10.1371/journal.pone.0127414
   PubMed Web of Science ®Google Scholar