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Article

CASZ1 loss-of-function mutation contributes to familial dilated cardiomyopathy.

Clinical chemistry and laboratory medicine - 28 Aug 2017

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 excerpt

BACKGROUND: The zinc finger transcription factor CASZ1 plays a key role in cardiac development and postnatal adaptation, and in mice, deletion of the CASZ1 gene leads to dilated cardiomyopathy (DCM). However, in humans whether genetically defective CASZ1 contributes to DCM remains unclear. METHODS: The coding exons and splicing junction sites of the CASZ1 gene were sequenced in 138 unrelated patients with...

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Identifiers

PMID: 28099117
DOI: 10.1515/cclm-2016-0612

Genes

CASZ1

Variants

Provenance

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