Article
Increased TBX6 gene dosages induce congenital cervical vertebral malformations in humans and mice.
Journal of medical genetics - 1 Jun 2020
Ren Xiaojun, Yang Nan, Wu Nan, Xu Ximing, Chen Weisheng, Zhang Ling, Li Yingping, Du Ren-Qian, Dong Shuangshuang, Zhao Sen, Chen Shuxia, Jiang Li-Ping, Wang Lianlei, Zhang Jianguo, Wu Zhihong, Jin Li, Qiu Guixing, Lupski James R, Shi Jiangang, Zhang Feng, Liu Pengfei
Abstract excerpt
BACKGROUND: Congenital vertebral malformations (CVMs) manifest with abnormal vertebral morphology. Genetic factors have been implicated in CVM pathogenesis, but the underlying pathogenic mechanisms remain unclear in most subjects. We previously reported that the human 16p11.2 BP4-BP5 deletion and its associated TBX6 dosage reduction caused CVMs. We aim to investigate the reciprocal 16p11.2 BP4-BP5 duplication and...
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