Nan Wu/Terry Jianguo Zhang/Zhihong Wu reveal the genetic architecture of congenital vertebral malformations associated with spine development
On February 6, 2024, Nan Wu, Jianguo Zhang, and Zhihong Wu from the Chinese Academy of Medical Sciences/Peking Union Medical College co-published a research paper titled “Unraveling the Genetic Architecture of Congenital Vertebral Malformation with Reference to the Developing Spine” in Nature Communications. This study analyzes the exome/genome sequencing data of 873 probands with congenital vertebral malformations and 3,794 control individuals. Clinical interpretation identified a Mendelian etiology in 12.0% of the probands and revealed a muscle-related disease mechanism.
