A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis

A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis

Authors

  • Shu Hisata Department of Respiratory Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan
  • H. Sakaguchi Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan
  • H. Kanegane Department of Pediatrics, Graduate School of Medicine and Pharmaceutical Science, University of Toyama, Toyama, Japan
  • T. Hidaka Department of Dermatology, Tohoku University Graduate School of Medicine, Sendai, Japan
  • M. Ichinose Department of Respiratory Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan
  • S. Kojima Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan
  • T. Nukiwa South Miyagi Medical Center, Ohgawara, Japan
  • M. Ebina Department of Respiratory Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan

Keywords:

Dyskeratosis congenita, DKC1, pulmonary fibrosis

Abstract

Dyskeratosiscongenita (DC) is a rare inherited multisystem disorder causedby mutations in seven genes involved in telomere biology, with approximately 20% of cases having pulmonarycomplications. DKC1 mutations exhibita severe disease phenotype of DC that develops in early childhood. Here, wereport a unique case of DC with pulmonaryfibrosis diagnosed at the ageof 46. A novel missense mutation(p.Arg65Lys) of DKC1 was detected, andpredicted to show a weak mutagenic effect. In spite of the steroid andimmunosuppressive treatment, he died of an acute exacerbation seven monthsafter the initial visit. This casesuggests that mutation subtypes can cause heterogeneity in DC and pulmonaryfibrosis.

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Published

25-11-2013

Issue

Vol. 30 No. 3 (2013)

Section

Case Reports

License

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How to Cite

1.
Hisata S, Sakaguchi H, Kanegane H, Hidaka T, Ichinose M, Kojima S, et al. A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis. Sarcoidosis Vasc Diffuse Lung Dis [Internet]. 2013 Nov. 25 [cited 2025 Apr. 10];30(3):221-5. Available from: https://mattioli1885journals.com/index.php/sarcoidosis/article/view/2855