Syndromic neurodevelopmental disorder associated with de novo variants in DDX23.
William BurnsLynne M BirdDelphine HeronBoris KerenDivya RamachandraIsabelle ThiffaultFlorencia Del VisoShivarajan AmudhavalliKendra EnglemanIlaria ParentiFrank J KaiserJolanta WierzbaKorbinian Maria RiedhammerSusanne LiptayNeda ZadehJoseph PorrmannAndrea FischerSophie GößweinHeather M McLaughlinAida TelegrafiKatherine G LangleyRichard SteetRaymond J LouieMichael J LyonsPublished in: American journal of medical genetics. Part A (2021)
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.
Keyphrases
- intellectual disability
- binding protein
- autism spectrum disorder
- transcription factor
- end stage renal disease
- nucleic acid
- endothelial cells
- ejection fraction
- newly diagnosed
- systematic review
- genome wide
- copy number
- chronic kidney disease
- peritoneal dialysis
- prognostic factors
- stem cells
- cell therapy
- amino acid
- left ventricular
- dna methylation
- attention deficit hyperactivity disorder
- mesenchymal stem cells
- patient reported outcomes
- case report
- african american
- working memory
- protein protein
- bone marrow