Research in the correlation between PPS and the gene mutation of IRF6

Abstract

Popliteal pterygium syndrome (PPS) is a rare autosomal dominant disorder. The clinical features of the syndrome are highly variable defects, often manifested as facial, limb, vulva and other deformities. IRF6(interferon regulatory factor 6, IRF6), as an important factor in the development of the oromaxillo-facial region, its mutation is significantly correlated with PPS. In this article, we would discuss the latest research progress of the correlation between the two based on the clinical realisation of PPS, structure and function of IRF6 gene. Key words: Popliteal pterygium syndrome; IRF6; Gene mutation