Author:
Qiu Xing-Biao,Qu Xin-Kai,Li Ruo-Gu,Liu Hua,Xu Ying-Jia,Zhang Min,Shi Hong-Yu,Hou Xu-Min,Liu Xu,Yuan Fang,Sun Yu-Min,Wang Jun,Huang Ri-Tai,Xue Song,Yang Yi-Qing
Abstract
AbstractBackground:The zinc finger transcription factor CASZ1 plays a key role in cardiac development and postnatal adaptation, and in mice, deletion of theMethods:The coding exons and splicing junction sites of theResults:A novel heterozygous CASZ1 mutation, p.K351X, was identified in an index patient with DCM. Genetic analysis of the mutation carrier’s family showed that the mutation co-segregated with DCM, which was transmitted in an autosomal dominant pattern with complete penetrance. The nonsense mutation, which was absent in 400 referential chromosomes, altered the amino acid that was highly conserved evolutionarily. Biological investigations revealed that the mutant CASZ1 had no transcriptional activity.Conclusions:The current study reveals
Subject
Biochemistry (medical),Clinical Biochemistry,General Medicine
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