Developmental and epileptic encephalopathy 44 due to compound heterozygous variants in the UBA5 gene: a case report

Abstract Background Developmental and epileptic encephalopathy (DEE) is a group of rare inherited disorders characterized by intellectual disability, delayed development, epileptic seizures, and other related symptoms. DEE44 is caused by mutations in the UBA5 gene, which encodes a ubiquitin-like protein involved in protein degradation and cell signaling. However, there is limited information on the genotype–phenotype correlation of DEE44, and its clinical features remain to be fully characterized. Case presentation We report a 12-month-old infant who presented with epileptic spastic seizures beginning at 4 months of age, accompanied by overall developmental delay, short stature, microcephaly, inability to hold his head upright, chasing vision, and high muscle tone in the extremities. Genetic findings showed compound heterozygous mutations of the UBA5 gene: NM_024818 c.562C > T(p.R188X) from the mother and NM_024818 c.214C > T(p.R72C) from the father. Conclusions This case report expands the clinical spectrum of DEE44 and highlights the importance of considering DEE44 in the differential diagnosis of developmental delay and epilepsy, even in the absence of classical symptoms suggestive of the condition. We hope that this case report will advance the understanding of DEE44 and improve the expertise of clinicians and early diagnose of this disease.