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| PubMed | |
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Article by Yu,Y.L |
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Article by Zuo,Y.G |
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Article by Zhu,T.S |
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Genetics of dyskeratosis congenita
Wang Yulu, Zuo Yagang, Zhu Tieshan. Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China Corresponding author: Zhu Tieshan, Email: zhuts2@163.com ��Abstract�� Dyskeratosis 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.
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