Deletion of a Single Lysine Residue at Position 292 of CAMK2A Disrupts Protein Function, Causing Severe Epileptic Encephalopathy and Intellectual Disability

Background: The use of NGS technology has rapidly increased during the last decade, and many new monogenic neurodevelopmental disorders have emerged. Pathogenic variants in neuronal CAMK2A gene been recently associated with “intellectual developmental disorder, autosomal dominant 53″ (OMIM#617798), a syndrome characterized by variable clinical manifestations including mild to severe intellectual disability, delayed psychomotor development, or absent speech, walking, seizures, dysmorphic features behavioral psychiatric as autism spectrum disorders, aggressive behavior, hyperactivity. (OMIM*114078) encodes for subunit calcium/calmodulin-dependent serine/threonine kinase II (CaMKII), which is predominately expressed brain, where it plays critical roles synaptic plasticity, learning, memory well migration. Methods Results: We hereby describe thirty-five-year-old woman affected disability epileptic encephalopathy. performed exome sequencing found de novo heterozygous variant (NM_171825.2: c.874_876delCTT; p.Lys292del), was fully correlated her phenotype. This first report an inframe single amino acid deletion patient disorder 53. predicted affect protein structure function interaction other proteins hits crucial functional site. Discussion: discuss our relation previously reported objective delineating possible genotype–phenotype correlations.