A novel missense mutation of DKC1 in dyskeratosis congenita with pulmonary fibrosis

Shu Hisata, H. Sakaguchi, H. Kanegane, T. Hidaka, J. Shiihara, Masakazu Ichinose, S. Kojima, T. Nukiwa, M. Ebina

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12 Citations (Scopus)


Dyskeratosis congenita (DC) is a rare inherited multisystem disorder caused by mutations in seven genes involved in telomere biology, with approximately 20% of cases having pulmonary complications. DKC1 mutations exhibit a severe disease phenotype of DC that develops in early childhood. Here, we report a unique case of DC with pulmonary fibrosis diagnosed at the age of 46. A novel missense mutation (p.Arg65Lys) of DKC1 was detected, and predicted to show a weak mutagenic effect. In spite of the steroid and immunosuppressive treatment, he died of an acute exacerbation seven months after the initial visit. This case suggests that mutation subtypes can cause heterogeneity in DC and pulmonary fibrosis.

Original languageEnglish
Pages (from-to)221-225
Number of pages5
JournalSarcoidosis Vasculitis and Diffuse Lung Diseases
Issue number3
Publication statusPublished - 2013


  • DCK1 mutations
  • Dyskeratosis congenita
  • Pulmonary fibrosis

ASJC Scopus subject areas

  • Internal Medicine
  • Immunology and Allergy
  • Pulmonary and Respiratory Medicine


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