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)
The mutation in
CNKSR2
leads to a broad spectrum of phenotypic variability and manifests as an X-linked intellectual disability. However, we reported that the male patient in this study not only had intellectual disability but also epileptic seizures. In addition, there were progressive language impairment, attention deficit hyperactivity disorder and
autism
. Electroencephalograms showed continuous spike-and-wave during sleep. Genetic testing revealed a
de novo
mutation of the
CNKSR2
gene (
c.2185C
>
T
,
p.Arg729Ter
) in the child that was not detected in the parents. Therefore, the child was diagnosed with X-linked epilepsy aphasia syndrome. Deletion of the
CNKSR2
gene has been rarely reported in epilepsy aphasia syndrome, but no
de novo
mutation has been found in this gene. This report not only adds to the spectrum of epilepsy aphasia syndrome but also helps clinicians in diagnosis and genetic counseling.
...
PMID:
CNKSR2
mutation causes the X-linked epilepsy-aphasia syndrome: A case report and review of literature. 3039 16
