De novo frameshift variants of HNRNPU in patients with early infantile epileptic encephalopathy: two case reports and literature review.

Variants in HNRNPU have been reported in patients with epileptic encephalopathy, early infantile 54 (OMIM 602869). We hereby describe two children from different families with autosomal dominance early-onset epileptic encephalopathy, and summarize the genotype and phenotype of reported individuals. Whole exome sequencing analysis was applied to the patients. De novo frameshift variants in the HNRNPU, c.143_149del7 (p.G48Afs*11) and c.1282delC(p.G429Afs*53) were identified respectively. This is the first time to report Chinese patients with early infantile epileptic encephalopathy causing by HNRNPU variants, and so far, these variants have not been reported in population gene database. The present study expands our knowledge of HNRNPU variants and emphasizes the importance of early gene diagnosis.