Article

Novel syndromic neurodevelopmental disorder caused by de novo deletion of<i>CHASERR</i>, a long noncoding RNA

2024-02-07

Abstract excerpt

<h4>Abstract/Summary</h4> Genes encoding long non-coding RNAs (lncRNAs) comprise a large fraction of the human genome, yet haploinsufficiency of a lncRNA has not been shown to cause a Mendelian disease. CHASERR is a highly conserved human lncRNA adjacent to CHD2– a coding gene in which de novo loss-of-function variants cause developmental and epileptic encephalopathy. Here we report three unrelated individuals eac...

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Literature Corpus work: 3d58c41e-cccf-5854-861e-5e5e7bc95d6b
DOI: 10.1101/2024.01.31.24301497

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