Department of Haematology, Division of Investigative Science, Faculty of Medicine, Imperial College London, Hammersmith Hospital, Du Cane Road, London, W12 ONN, United Kingdom,
Cytotechnology. 2004 Jun;45(1-2):13-22. doi: 10.1007/s10616-004-5121-5.
Dyskeratosis congenita (DC) is a multi system bone marrow failure syndrome characterized by muco-cutaneous abnormalities and an increased predisposition to malignancy. It exhibits considerable clinical and genetic heterogeneity. X-linked recessive, autosomal dominant and autosomal recessive forms of the disease are recognized. The X-linked recessive form is due to mutations in dyskerin, which is a component of both small nucleolar ribonuclear protein particles and the telomerase complex. Autosomal dominant DC is due to mutations in the RNA component of telomerase, TERC. As dyskerin and TERC are both components of the telomerase complex and all patients with DC have short telomeres it appears that the principal pathology in DC relates to telomerase dysfunction. The gene or genes involved in the recessive form of DC remain elusive, though genes whose products are required for telomere maintenance remain strong candidates. The study of DC has highlighted the critical role of telomerase and the consequences, including premature aging and malignancy, of its dysfunction.
先天性角化不良（DC）是一种多系统骨髓衰竭综合征，其特征为黏膜皮肤异常和恶性肿瘤易感性增加。它表现出相当大的临床和遗传异质性。已认识到该病的 X 连锁隐性、常染色体显性和常染色体隐性形式。X 连锁隐性形式是由于核仁小核糖核蛋白颗粒和端粒酶复合物的组成部分之一的核蛋白的突变。常染色体显性 DC 是由于端粒酶 RNA 成分 TERC 的突变。由于核蛋白和 TERC 都是端粒酶复合物的组成部分，并且所有 DC 患者的端粒都很短，因此 DC 的主要病理学似乎与端粒酶功能障碍有关。尽管需要端粒维持的产物的基因仍然是强有力的候选者，但 DC 隐性形式涉及的基因或基因仍未确定。对 DC 的研究强调了端粒酶的关键作用及其功能障碍的后果，包括过早衰老和恶性肿瘤。
