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2022, Vol. 26 ›› Issue (14): 2291-2296Pathological changes caused by mutations in polydactyly related genesLi Qingman, Guo Feng, Liu Fangfang, Zhang Haiying, Liu Hui
Abstract: BACKGROUND: Congenital polydactyly is the most common limb deformity in clinic, which can be divided into syndromic and non-syndromic types. Non-syndromic type can be further divided into pre-axial polydactyly, post-axial polydactyly, and complex polydactyly, which usually affect the appearance, and even seriously impact the function of fingers(toes). Patients with syndromic polydactyly (toe) deformity have specific clinical manifestations such as developmental delay and mental retardation. OBJECTIVE: To summarize the genes and signal pathways related to the occurrence of polydactyly in order to understand the pathogenesis of polydactyly. METHODS: CNKI, WanFang, VIP, PubMed, and Sci-Hub were retrieved for literatures related to polydactyly published in recent 20 years. The keywords used were “polydactyly, gene, gene mutation, pathway” in English and Chinese, respectively. RESULTS AND CONCLUSION: Existing research on the mechanism of polydactyly has found genes associated with polydactyly, such as GLI3, SHH, TWIST1, LMBR1, FGF, and signaling pathways, such as GLI3-SHH, TGF-beta and Wnt. Therefore, whether there is mutual influence and influence mechanism between signal pathways is one of the directions of future exploration. Although much progress has been made in the research on polydactyly genes, there are still many difficulties to overcome. Key words: polydactyly, gene, gene mutation, clinical manifestation, pathological change, signaling pathway, review |