A Novel SLC9A6 Mutation Associated with Christianson Syndrome in a Non-Consanguineous Iranian Family: A Case Report

Abstract

Introduction: Christianson syndrome is a neurological disorder characterized by recurrent seizures resulting from abnormal brain neuron discharge. Primarily emerging in childhood, Christianson syndrome is marked by a complex clinical presentation intertwined with social and learning disabilities. Moreover, it is often associated with severe epilepsy, encompassing various debilitating neurological conditions marked by frequent seizures and developmental challenges. Case Presentation: A 2-year-old Iranian boy presented with developmental delays and tonic-clonic seizures. Physical examination revealed microcephaly, motor delays, and other neurological abnormalities. Genetic testing identified a novel hemizygous missense mutation, c.577G>A; p.Gly193Arg, in the SLC9A6 gene. This mutation likely contributes to Christianson syndrome, characterized by intellectual disability, epilepsy, and other neurological impairments. Further validation confirmed the mutation's presence, highlighting its significance in the patient's clinical presentation. Conclusion: The c.577G>A; p.Gly193Arg mutation in the SLC9A6 gene sheds light on the pathogenesis of Christianson syndrome by disrupting the normal function of the SLC9A6 protein crucial for neuronal development. This discovery underscores the significance of SLC9A6 in maintaining cellular homeostasis and highlights its role in neurological disorders. Further exploration of this mutation's effects may lead to targeted therapeutic strategies for managing the debilitating symptoms of Christianson syndrome.

Keywords

• christianson syndrome
• slc9a6 gene
• mutation