Article
Intron retention by a novel intronic mutation in DKC1 gene caused recurrent still birth and early death in a Chinese family.
Molecular genetics & genomic medicine - 1 Jun 2022
Guo Qiufang, Zhang Ping, Ying Wenjing, Wang Yaqiong, Zhu Jitao, Li Gang, Wang Huijun, Wang Xiaochuan, Lei Caixia, Zhou Wenhao, Sun Jinqiao, Wu Bingbing
Abstract excerpt
BACKGROUND: DKC1, the dyskerin encoding gene, functions in telomerase activity and telomere maintenance. DKC1 mutations cause a multisystem disease, dyskeratosis congenita (DC), which is associated with immunodeficiency and bone marrow failure. METHODS: In this research, we reported a novel intronic mutation of DKC1 causing dyskerin functional loss in a Chinese family. Whole exome sequence (WES) of the proband...
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