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CHASERR deletion
Epidemilogy:
- rare, 3 cases
Pathology:
- deletions of CHASERR, a long non-coding RNA
- results in increased expression of a nearby coding gene CHD2
- early-onset syndrome of severe encephalopathy with cortical atrophy, cerebral hypomyelination, & facial dysmorphism
Clinical manifestations:
- one patient Emma
- wheelchair-bound
- non-verbal
- uses a feeding tube
- severe intellectual delays
General
neurologic disease
chromosomal deletion
References
- George J
First Cases of New Neurology Syndrome Identified
Long non-coding RNA implicated in human disease
MedPage Today October 23, 2024
https://www.medpagetoday.com/neurology/generalneurology/112548
- Ganesh VS, Riquin K, Chatron N et al
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.
N Engl J Med. 2024 Oct 24;391(16):1511-1518.
PMID: 39442041