Dyskeratosis congenita

被引：53

作者：

Bessler, Monica ^{[1
,2
]}

Wilson, David B. ^{[2
,3
]}

Mason, Philip J. ^{[1
,4
]}

机构：

[1] Washington Univ, Sch Med, Dept Med, Div Hematol, St Louis, MO 63110 USA

[2] Washington Univ, Sch Med, Dept Dev Biol, St Louis, MO 63110 USA

[3] Washington Univ, Sch Med, Dept Pediat, St Louis, MO 63110 USA

[4] Washington Univ, Sch Med, Dept Genet, St Louis, MO 63110 USA

来源：

FEBS LETTERS | 2010年 / 584卷 / 17期

关键词：

Dyskeratosis congenita; Telomerase; Pulmonary fibrosis; Aplastic anemia; Anticipation; Telomere; TELOMERASE REVERSE-TRANSCRIPTASE; FUNCTIONAL-CHARACTERIZATION; CLINICAL PRESENTATION; TERMINAL TRANSFERASE; PULMONARY-FIBROSIS; CRYSTAL-STRUCTURE; HUMAN FIBROBLASTS; APLASTIC-ANEMIA; MUTATIONS; RNA;

D O I：

10.1016/j.febslet.2010.05.019

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Dyskeratosis congenita (DC) was originally defined as a rare inherited bone marrow failure (BMF) syndrome associated with distinct mucocutaneous features. Today DC is defined by its pathogenetic mechanism and mutations in components of the telomere maintenance machinery resulting in excessively short telomeres in highly proliferating tissues. With this new definition the disease spectrum has broadened and ranges from intrauterine growth retardation, cerebellar hypoplasia, and death in early childhood to asymptomatic mutation carriers whose descendants are predisposed to malignancy, BMF, or pulmonary disease. The degree of telomere dysfunction is the major determinant of disease onset and manifestations. (C) 2010 Federation of European Biochemical Societies. Published by Elsevier B. V. All rights reserved.

引用

页码：3831 / 3838

页数：8

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