MOLECULAR BASES OF CLEFT LIP WITH OR WITHOUT CLEFT PALATE

Nonsyndromic orofacial cleft is a common congenital anomaly with significant medical, psychological and social impact. In the last decade significant progress in the field of cleft genetics were made. Indeed, worldwide research identified chromosomal regions linked to the disease, susceptibility genes and genes causing clefting syndromes. At this point of knowledge, we think that using the new information coming from the human genome project, we can finally obtain the important results that could move the interest from basic research to clinical application. The aim of the present project is the identification of genes and mutations involved in nonsyndromic cleft lip with or without cleft palate malformation. This is a critical step that can transfer research finding to clinical applications. Specific genetic tests might be developed to improve counselling while direct identification of modifier genes might assist in the recognition of new genetic and environmental causes. Due to the high prevalence of CL/P malformation, many patients and their families will benefit of these findings.