A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis.
A Novel Missense Mutation of DKC1 In Dyskeratosis Congenita With Pulmonary Fibrosis.
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发表时间：
2013-11
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通讯作者：
S. Hisata;H. Sakaguchi;H. Kanegane;T. Hidaka;J. Shiihara;M. Ichinose;S. Kojima;T. Nukiwa;M. Ebina
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作者：
S. Hisata;H. Sakaguchi;H. Kanegane;T. Hidaka;J. Shiihara;M. Ichinose;S. Kojima;T. Nukiwa;M. Ebina
先天性角化不良（DC）是一种罕见的遗传性多系统疾病，由参与端粒生物学的七个基因突变引起，大约20%的病例有肺部并发症。DKC 1突变表现出在儿童早期发展的DC的严重疾病表型。在这里，我们报告了一个独特的情况下，DC与肺纤维化诊断在46岁。检测到DKC 1的一个新的错义突变（p.Arg65Lys），并预测其显示出弱的致突变作用。尽管进行了类固醇和免疫抑制治疗，但他在初次就诊后7个月死于急性加重。该病例提示突变亚型可导致DC异质性和肺纤维化。
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.