Article
A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis.
Sarcoidosis, vasculitis, and diffuse lung diseases : official journal of WASOG - 25 Nov 2013
Hisata S, Sakaguchi H, Kanegane H, Hidaka T, Shiihara J, Ichinose M, Kojima S, Nukiwa T, Ebina M
Abstract excerpt
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...
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