Syndromic neurodevelopmental disorder associated with de novo variants in DDX23

William Burns, Lynne M. Bird, Delphine Heron, Boris Keren, Divya Ramachandra, Isabelle Thiffault, Florencia Del Viso, Shivarajan Amudhavalli, Kendra Engleman, Ilaria Parenti, Frank J. Kaiser, Jolanta Wierzba, Korbinian M. Riedhammer, Susanne Liptay, Neda Zadeh, Joseph Porrmann, Andrea Fischer, Sophie Gößwein, Heather M. McLaughlin, Aida TelegrafiKatherine G. Langley, Richard Steet, Raymond J. Louie, Michael J. Lyons*

*Corresponding author for this work


The DEAD/DEAH box RNA helicases are a superfamily of proteins involved in the processing and transportation of RNA within the cell. A growing literature supports this family of proteins as contributing to various types of human disorders from neurodevelopmental disorders to syndromes with multiple congenital anomalies. This article presents a cohort of nine unrelated individuals with de novo missense alterations in DDX23 (Dead-Box Helicase 23). The gene is ubiquitously expressed and functions in RNA splicing, maintenance of genome stability, and the sensing of double-stranded RNA. Our cohort of patients, gathered through GeneMatcher, exhibited features including tone abnormalities, global developmental delay, facial dysmorphism, autism spectrum disorder, and seizures. Additionally, there were a variety of other findings in the skeletal, renal, ocular, and cardiac systems. The missense alterations all occurred within a highly conserved RecA-like domain of the protein, and are located within or proximal to the DEAD box sequence. The individuals presented in this article provide evidence of a syndrome related to alterations in DDX23 characterized predominantly by atypical neurodevelopment.

Original languageEnglish
JournalAmerican Journal of Medical Genetics, Part A
Publication statusPublished - 2021

Research Areas and Centers

  • Research Area: Medical Genetics


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