Neurodevelopmental Disorder Caused by Deletion of <i>CHASERR</i>, a lncRNA Gene.

ABSTRACT: CHASERR encodes a human long noncoding RNA (lncRNA) adjacent to CHD2, a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here, we report our findings in three unrelated children with a syndromic, early-onset neurodevelopmental disorder, each of whom had a de novo deletion in the CHASERR locus. The children had severe encephalopathy, shared facial dysmorphisms, cortical atrophy, and cerebral hypomyelination - a phenotype that is distinct from the phenotypes of patients with CHD2 haploinsufficiency. We found that the CHASERR deletion results in increased CHD2 protein abundance in patient-derived cell lines and increased expression of the CHD2 transcript in cis. These findings indicate tha

SUBMITTER: Ganesh VS 

PROVIDER: S-EPMC11826417 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature