Susceptibility genes in the etiology of nonsyndromic cleft lip and palate anomalies

Several susceptibility genes (AKA candidate genes) MTHFR, TGFA, IRF6, MSX1, TGFB3 and others have been found associated with nonsyndromic cleft lip with or without cleft palate (NCL/P), one of the most common birth defects around the world. Among these genes, Interferon Regulatory Factor 6 (IRF6), a member of the IRF family of transcription factors, known to play an important role in orofacial development, has been found associated with NCL/P. Several studies have established IRF6 mutations as a monogenic cause of syndromic cleft lip and palate, namely Van der Woude syndrome. In NCL/P, IRF6 may be part of a complex multifactorial etiology. Our objective is to conduct a pilot study to determine, if IRF6 gene variants are associated with NCL/P in Karaikal, India