Detection of a genetic variant of Apert syndrome

Introduction: Apert syndrome (AS), or acrocephalosyndactyly type I, is an autosomal dominant congenital disorder caused by a mutation in the FGFR2 gene, essential during embryonic development. It is characterized by craniosynostosis, midface hypoplasia and syndactyly. Although rare, its incidence is 1/100,000 to 1/160,000 live births, with a prevalence of 1 to 9 cases per 100,000 persons. Prenatal diagnosis is complex due to its similarity to other congenital syndromes. Objective: This article analyzes the genetic and molecular characterization of a patient diagnosed with Apert syndrome. Methodology: Informed consent was obtained and a clinical history and physical examination were performed. Blood samples were collected for paraclinical and molecular tests, as well as imaging studies. Results: The results showed phenotypic characteristics compatible with the syndrome, such as strabismus, proptosis and anterior plagiocephaly-type craniosynostosis. Genetic studies detected a pathogenic variant in the FGFR2 gene (c.755C>G) and a variant of uncertain significance (c.532C>T). Discussion: The FGFR2 mutation (c.755C>G) is one of the most frequent in AS and is suggested to affect receptor specificity, leading to suppression of osteoblast apoptosis, resulting in the phenotypic features of the syndrome. Conclusion: Although the variant of uncertain significance (c.532C>T) has deleterious features, no other cases with this variant have been reported. Currently, the patient has not presented additional deterioration and the prognosis remains uncertain. Further molecular studies are considered necessary to investigate this new variant and its clinical implications.