摘要先天性角化不良是一种少见的具有临床特征和遗传异质性的遗传综合征.分为X染色体隐性、常染色隐性遗传和常染色体显性遗传3种遗传方式.研究表明,60％的先天性角化不良患者存在已知基因的突变,至今发现的所有致突变的基因在端粒酶活性、组装或者端粒完整性上均起作用.概述已发现的疾病相关基因的研究进展,并阐明不同基因突变与疾病临床特征的关系,对基因突变的研究可为基因治疗提供证据.

abstractsDyskeratosis congenita (DC) is a rare genetic syndrome with characteristic clinical features and genetic heterogeneity.There are three inherited forms,including X-linked recessive inheritance,autosomal recessive inheritance and autosomal dominant inheritance.Reports have indicated that 60％ of patients with DC harbor mutations of known genes,all of which have been found to be associated with the activity,assembly or integrity of telomerases.In this review,the authors mainly summarize advances in DC-related genes,and elucidate the relationship of different gene mutations with clinical features of DC.The studies on gene mutations may lay a fundation for gene therapy.