Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0004352 (
autism
)
32,579
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:A recurrent de novo CUX2 missense variant associated with intellectual disability, seizures, and autism spectrum disorder. 2979 76
