A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud.
Caixia XuXiaoming YangHang ZhouYongyong LiChao XingTaifeng ZhouDongmei ZhongChengjie LianMei YanTao ChenZhiheng LiaoBo GaoDeying SuTingting WangSwarkar SharmaChandra MohanNadav AhituvSajid MalikQuan-Zhen LiPeiqiang SuPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)
Our results identify the first PPD I disease-causing variant. The variant leading to PPD I may be associated with enhancing SHH expression mediated by HnRNP K. This study adds to the ZRS-associated syndromes classification system for PPD and clarifies the underlying molecular mechanisms.