Novel DIP2C gene splicing variant in an individual with focal infantile epilepsy

Abstract Disco‐interacting protein 2 C (DIP2C) encodes a disco‐interacting protein and is highly expressed in the nervous system. Most variants of DIP2C are microdeletions on chromosome 10p15.3. This study reports a 17‐month‐old infant with focal infantile epilepsy who has a single‐nucleotide variation in DIP2C that results in alternative splicing. The de novo variation (NM_014974.3: c.1057+2T>G) in DIP2C was uncovered through whole‐exome sequencing. Minigene assays were performed and verified the alternative splicing caused by the variation. Finally, an 80‐bp nucleotide deletion in the 3′ end of Exon 8 was detected. Our study identified a de novo splicing variant that affects the coding length of DIP2C. This finding provides a new candidate gene for focal infantile epilepsy. Importantly, our finding is the first to associate a single nucleotide variant in DIP2C with focal infantile epilepsy.