Article
Neurodevelopmental Disorder Caused by Deletion of CHASERR, a lncRNA Gene.
The New England journal of medicine - 24 Oct 2024
Ganesh Vijay S, Riquin Kevin, Chatron Nicolas, Yoon Esther, Lamar Kay-Marie, Aziz Miriam C, Monin Pauline, O'Leary Melanie C, Goodrich Julia K, Garimella Kiran V, England Eleina, Weisburd Ben, Aguet François, Bacino Carlos A, Murdock David R, Dai Hongzheng, Rosenfeld Jill A, Emrick Lisa T, Ketkar Shamika, Sarusi Yael, Sanlaville Damien, Kayani Saima, Broadbent Brian, Pengam Alisée, Isidor Bertrand, Bezieau Stéphane, Cogné Benjamin, MacArthur Daniel G, Ulitsky Igor, Carvill Gemma L, O'Donnell-Luria Anne
Abstract excerpt
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...
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