De novo mutation in the DEAF1 gene and its relation to autism: a case study

• Autor(a) principal: Estrada, Patrícia Fonseca
• Data de Publicação: 2021
• Outros Autores: Tavares, Camila
• Tipo de documento: Artigo
• Idioma: por; eng
• Título da fonte: REVISA : Revista de Divulgação Científica Sena Aires (Online)
• Texto Completo: https://rdcsa.emnuvens.com.br/revista/article/view/158
• topic: Cromossomos Humanos Par 11; Mutação Pontual; Transtorno do Espectro Autista; Chromosomes Human Pair 11; Point Mutation; Autism Spectrum Disorder

Objective: To analyze the implications, impacts and development of an individual diagnosed with ASD and carrying a de novo mutation in the DEAF1 gene, from the various perspectives of interventions performed. Method: This is a descriptive study, with the patient's history of treatments, and most recent laboratory and genetic results.Results: Symptoms were noticed at 2 years old and specific diagnosis at 5. At 8 years old he had his first tonic-clonic seizure and the electroencephalogram was altered. After, it was obtained the confirmed molecular diagnosis. He had refractory epilepsy that was difficult to control and aggravated with an attempt to use cannabinoid derivatives in conjunction with transcranial electrical stimulation. At the moment, treatments, multidisciplinary care, allergen exclusion diet and individual control medications, reduced the intensity of epileptic seizures and there was better control of his general condition. Conclusion: This study describes how the de novo mutation in the DEAF1 gene is related to ASD and neurocognitive development impairment. Therapies and methods must respect each patient in their individuality