Novel variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review.

The gene plays a crucial role in RNA metabolism and brain development, and mutations in this gene have been associated with neurodevelopmental disorders. The variability in the clinical presentation of -related disorders is highlighted, emphasizing the importance of considering this condition in the differential diagnosis of neurodevelopmental disorders. This study aimed to identify a causative variant in an Iranian patient affected by developmental delay, speech delay, seizure, and clubfoot through whole exome sequencing (WES) followed by Sanger sequencing. The WES revealed a novel biallelic variant of the , c.398A>G (p.His133Arg), in the patient, which segregated within the family. A literature review suggests that the phenotypic variability associated with mutations is likely due to multiple factors, including the location and type of mutation, the specific functions of the protein, and the influence of other genetic and environmental factors. The phenotypic variability of related disorders underscores the importance of considering -related disorders in the differential diagnosis of epileptic encephalopathy with rigidity. These findings provide important insights into the role of in neurodevelopmental disorders and highlight the potential clinical implications of identifying and characterizing novel variants in this gene.