Epileptic encephalopathy by mutation in the DHX30 gene: Report of the first Latin-American patient

Abstract

Introduction: Epileptic encephalopathy due to a mutation in the DHX30 gene (DExH-Box Helicase 30) is a rare genetic disease, characterized by intellectual deficit, seizures and malformations of the central nervous system. Patients with mutations in this gene
often have seizures refractory to numerous drug therapies, absence of speech and significant motor delay. Objective: To report the first Latin American patient affected by mutations in the DHX30 gene. Case report: Male patient, son of non-consanguineous parents, referred for investigation of neuropsychomotor delay associated with difficult to control epilepsy. After extensive investigation and without obtaining diagnostic clarification, it was decided to perform complete exome sequencing, the result of which revealed a new mutation in the DHX30 gene as the cause of the patient’s clinical condition. Discussion: Mutations in the DHX30 gene have recently been related to the phenotype known as neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL). It is a clinical spectrum ranging from signs of neuropsychomotor delay
with hypotonia to pictures of devastating epileptic encephalopathy associated with neuronal migration defects. Through new generation sequencing techniques, such as complete exome sequencing, new genes related to neurodevelopmental disorders and epileptic
encephalopathy have been identified, allowing for diagnostic clarification and genetic counseling for families affected by these diseases.