Etiological investigation of the oculoauriculofrontonasal syndrome

• Grant number: 24/02970-1
• Support Opportunities: Scholarships in Brazil - Doctorate
• Start date: August 01, 2024
• End date: March 31, 2027
• Field of knowledge: Biological Sciences - Genetics - Human and Medical Genetics
• Principal Investigator: Roseli Maria Zechi Ceide
• Grantee: Henrique Regonaschi Serigatto
• Host Institution: Hospital de Reabilitação de Anomalias Craniofaciais (HRAC). Universidade de São Paulo (USP). Bauru , SP, Brazil

Abstract

The oculoauriculofrontonasal syndrome (OAFNS) is a rare condition, with isolated cases and unknown etiology. The OAFNS is characterized by the clinical overlap of two well-described conditions: the frontonasal dysplasia (FND) and craniofacial microsomia (CFM). Main clinical findings include ocular hypertelorism, epibulbar dermoid, broad or bifid nose, mandibular hypoplasia, ear anomalies, preauricular tags, as well as the ectopic nasal bone, an exclusive radiological finding that reinforces the clinical diagnosis of OAFNS. Up to date, approximately 100 cases have been reported in the literature. Regarding the etiology, next generation sequencing (NGS) performed were not conclusive yet. Thus, our main goal is to investigate the etiology of OAFNS through NGS and evaluate the hypothesis that the number of individuals with OAFNS already investigated is not sufficient to exclude the effectiveness of NGS in the etiological investigation. Therefore, our goals also include testing the hypothesis that the causative mechanism of the OAFNS encompasses, or not, non-traditional inheritance models, as suggested by few studies.