Analysis of genes ALX1, ALX3, and ALX4 in patients with complex craniofacial anomalies associated with eye development

• Grant number: 12/04378-5
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: May 01, 2012
• End date: October 31, 2013
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Lucilene Arilho Ribeiro Bicudo
• Grantee: Caroline de Oliveira Bessão
• Host Institution: Hospital de Reabilitação de Anomalias Craniofaciais (HRAC). Universidade de São Paulo (USP). Bauru , SP, Brazil

Abstract

Craniofacial defects result in lifelong disabilities and can pose great challenges for families and for society, and also have serious effects on the life expectancy of the affected individual. The formation of the human face is a precisely orchestrated developmental process involving the frontonasal tissues and maxillary and mandibular prominences, derived from the neural crest. During the critical period between the fourth and eighth weeks of fetal development, these processes must undergo cell proliferation and fusion of the tissue to form the orbital, nasal and oral structures. Disturbances in this developmental sequence cause frontonasal malformation, a heterogeneous group of disorders characterized by the combination of hypertelorism, abnormal nasal configuration, and oral-facial clefts, sometimes associated with facial asymmetry, auricular, ocular or cerebral malformation, and cranial bifid above. ALX vertebrate genes have important roles in development and are associated with the neural tube, limb development, and more specifically craniofacial development. The Hospital for Rehabilitation of Craniofacial Anomalies (HRAC/USP-Bauru) currently has about 62,000 patients registered with craniofacial anomalies. Given the series of patients at HRAC/USP and reviewing the scientific publications, we notice in our hospital patients are phenotypically associated with alterations in genes ALX1, ALX3, and ALX4. Therefore, we intend to analyze the genes listed in order to relate possible changes detected to the patient's phenotypes.(AU)