Association of IRF6 (G820A) Gene Variant with Nonsyndromic Cleft Lip and Palate in South Indian Population

Abstract

Introduction: Cleft lip and palate (CLP) is a major congenital structural anomaly. Cleft lip and palate has significant complex etiology involving both genetic and environmental factors and lifelong morbidity. Mutations in various genes like TGFB3, RARA, IRF6 have been responsible for causing CLP in various populations.IRF6 gene provides instructions for making a protein interferon regulatory factor, which is active in cells that give rise to tissues in the craniofacial region. The mutations in IRF6 gene can lead to NSCLP, tooth agenesis, etc.