A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder

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Maria Barington, Lotte Risom, Jakob Ek, Peter Uldall, Elsebet Ostergaard

In most patients with intellectual disability (ID), the etiology is unknown, but lately several de novo variants have been associated with ID. One of the involved genes, CUX2, has twice been reported to be affected by a de novo variant c.1768G>A; p.(Glu590Lys) in patients with ID or epileptic encephalopathy. CUX2 is expressed primarily in nervous tissues where it may act as a transcription factor involved in neural specification. Here we describe a third case who was diagnosed with epilepsy including general and myoclonic seizures, moderate to severe cognitive disability, and infantile autism. The patient was heterozygous for the c.1768G>A; p.(Glu590Lys) variant in CUX2 identified by whole exome sequencing. These findings strongly suggest a causal impact of this variant and add to our understanding of a subset of patients with ID, seizures, and autism spectrum disorder as well as suggest an important role for the CUX2 gene in human brain function.

Original languageEnglish
JournalEuropean Journal of Human Genetics
Issue number9
Pages (from-to)1388-1391
Number of pages4
Publication statusPublished - 2018

    Research areas

  • Adolescent, Autism Spectrum Disorder/genetics, Child, Female, Homeodomain Proteins/genetics, Humans, Intellectual Disability/genetics, Male, Mutation, Missense, Seizures/genetics, Syndrome

ID: 218469464