Article
Unraveling the genetic architecture of congenital vertebral malformation with reference to the developing spine.
Nature communications - 6 Feb 2024
Zhao Sen, Zhao Hengqiang, Zhao Lina, Cheng Xi, Zheng Zhifa, Wu Mengfan, Wen Wen, Wang Shengru, Zhou Zixiang, Xie Haibo, Ruan Dengfeng, Li Qing, Liu Xinquan, Ou Chengzhu, Li Guozhuang, Zhao Zhengye, Chen Guilin, Niu Yuchen, Yin Xiangjie, Hu Yuhong, Zhang Xiaochen, Liu Pengfei, Qiu Guixing, Liu Wanlu, Zhao Chengtian, Wu Zhihong, Zhang Jianguo, Wu Nan
Abstract excerpt
Congenital vertebral malformation, affecting 0.13-0.50 per 1000 live births, has an immense locus heterogeneity and complex genetic architecture. In this study, we analyze exome/genome sequencing data from 873 probands with congenital vertebral malformation and 3794 control individuals. Clinical interpretation identifies Mendelian etiologies in 12.0% of the probands and reveals a muscle-related disease mechanism....
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