关键词: 多指 (趾) 畸形, 基因突变, 前-后肢体模式, SHH 信号通路

Abstract: Polydactyly deformity is one of the most common limb deformities, which can be hereditary. It has two types: the syndromic polydactyly and the non-syndromic polydactyly. The nonsyndromic polydactyly can be divided into preaxial, post-axial and central polydactyly according to the anatomical location, while the syndromic polydactyly refers to the polydactyly phenotype accompanied by other symptoms. In recent years, methods including linkage analysis and whole exome sequencing have been used for the analysis of locations and mutations of the pathogenic genes for polydactyly. The proteins expressed by the mutated genes may have an impact on the related signaling pathways. This article aims to understand the research progress on polydactyly pathogenic genes by summarizes the polydactyly deformity and the main pathways affecting the anterior and posterior patterns of the limbs, and to provide foundations and ideas for future researches on the blocking of polydactyly at the embryonic stage.

Key words: polydactyly, gene mutation, A-P limb patterning, SHH signaling pathway