Description of the behavior of the MMP3, TIMP2 and IRF6 genes in patients with cleft lip syndromic and non-syndromic palates.

• Grant number: 24/12562-8
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: December 01, 2024
• End date: November 30, 2025
• Field of knowledge: Health Sciences - Dentistry
• Principal Investigator: Daniela Franco Bueno
• Grantee: Jean Rodrigues Evangelista
• Host Institution: Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE). Sociedade Beneficente Israelita Brasileira Albert Einstein (SBIBAE). São Paulo , SP, Brazil

Abstract

Syndromic cleft lip and palate (CL/P) always occur associated with other cognitive or physical changes and are the result of a failure in the fusion of visual processes during embryogenesis. They represent 30% of cases of fissures and among them the most common is Van Der Woude syndrome (VWS), which is characterized by presenting enormous clinical variability, with different phenotypic expressions of fissure and also agenesis of the 2nd pre- molars, in 10% to 20% of cases. SVW is an autosomal dominant pathology, caused mainly by mutations in the IRF6 gene. Studies carried out to identify genetic predisposition factors for non-syndromic clefts, which represent 70% of cleft cases, have demonstrated that polymorphisms in the IRF6 gene may be associated with non-syndromic clefts. Due to the presence of different phenotypes in patients from the same family who have the same IRF6 mutation, in this scoping review we will write about this gene. Furthermore, data from the literature indicate that changes in homeostasis between matrix metalloproteinases (MMPs) and tissue inhibitors of metalloproteinases (TIMPs) are fundamental for the development of facial structures and that changes in these genes may be predisposing factors for non-syndromic cleft and lip palate, and the phenotypic variation of clefts in cases of Van der Woude syndrome may vary. Therefore, the objective of this study is to review the literature on the MMPs, TIMPs and IRF6 genes and establish their correlations with the different phenotypes of Van Der Woude Syndrome (FLP + PITS, FLP, FP, FL or PITS), as well as with non-syndromic fissures.