Transtorno do espectro autista e variante no gene tcf 20: um relato de caso

Abstract

The study explores the connection between the TCF20 gene and Autism Spectrum Disorder (ASD), highlighting the relevance of genetic research in diagnosing and managing the condition. Objective: to describe the case of a 22-year-old female patient with ASD and intellectual disability associated with a mutation in the TCF20 gene and to emphasize the importance of etiological diagnosis for genetic counseling. Methodology: this is a case report, including clinical evaluation of the patient and a literature review. Whole-exome sequencing (WES) was performed, identifying a de novo mutation in the TCF20 gene, which is associated with delays in neuropsychomotor and behavioral development. The study also utilized databases such as NCBI and OMIM to deepen the genetic analysis. Results: the patient presented with various symptoms, including intellectual disability, psychiatric disorders, and motor impairments, all linked to the TCF20 mutation. Conclusion: the study reinforces the critical role of TCF20 in neurogenesis and the development of ASD, underscoring the need for early identification of genetic mutations to ensure more effective management of the condition and support for affected families.