Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita
Limbal stem cell deficiency in patients with inherited stem cell disorder of dyskeratosis congenita
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DOI：
10.1007/s10792-012-9611-8
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发表时间：
2012-12-01
影响因子：
1.6
通讯作者：
Dokal, Inderjeet
中科院分区：
文献类型：
--
作者：
Aslan, Deniz;Akata, Rustu F.;Dokal, Inderjeet
本研究的目的是提出角膜缘干细胞缺乏症（LSCD）的情况下，类似先天性角化不良症（DC），一种遗传性疾病的干细胞主要是由端粒酶缺乏引起的功能。四例的临床，实验室和分子研究结果。以标准化方式对每例患者进行完整的全身检查。实验室测量包括用于筛查DC的测试的调查。对DC中所有8个已知的致病基因（DKC 1、TERC、TERT、NOP 10、NHP 2、TINF 2、C16orf57和TCAB 1）进行突变筛查。在可能的情况下，还对病例的家庭成员进行了评估。在所有4例患者中，存在多系统受累，沿着影响角膜LSC的疾病。受影响的组织主要是皮肤及其附属器、口腔和造血系统，这些是快速更新的组织，与干细胞疾病的存在一致。类似的受影响病例在家庭的不同世代中也有出现，这表明潜在的遗传性疾病。在这些患者的任何已知致病基因中均未检测到突变。根据目前的情况下，并与以前报道的DC病例审查的贡献，我们认为，DC是LSCD的遗传原因之一，这些情况下，LSCD可能代表一个亚组的DC突变所造成的一个尚未确定的基因。
The aim of this study is to present the limbal stem cell deficiency (LSCD) cases with features resembling dyskeratosis congenita (DC), a heritable disease of stem cells principally caused by telomerase deficiency. The clinical, laboratory and molecular findings of four cases are presented. A complete systemic examination was performed in a standardized manner for each patient. Laboratory measurements included investigations of the tests used for screening DC. All eight known disease-causing genes in DC (DKC1, TERC, TERT, NOP10, NHP2, TINF2, C16orf57, and TCAB1) were screened for mutations. The family members of the cases were also assessed, when possible. In all four patients, multisystem involvement was present, along with the disorder affecting corneal LSCs. The affected tissues were mainly the skin and its adnexa, the oral cavity and the hematopoietic system, which are rapidly renewing tissues, consistent with the presence of a stem cell disorder. Similarly affected cases were seen in different generations in families, suggesting an underlying inherited disorder. No mutation was detected in any of the known disease-causing genes in these patients. Based on the presented cases and with the contribution of the review of previously reported DC cases available, we suggest that DC is one of the inherited causes of LSCD and that those cases presenting with LSCD might represent a subgroup of DC caused by mutations in an as yet undefined gene.