Burns et al., 2021 described a cohort of nine unrelated individuals with de novo missense variants in the DDX23 gene presenting with a syndromic neurodevelopmental disorder characterized by developmental delay, abnormal muscle tone, autism spectrum disorder or autistic features, seizures, short stature, decreased body weight, and dysmorphic facial features. A de novo missense variant in the DDX23 gene had previously been identified in an ASD proband from the Simons Simplex Collection in Iossifov et al., 2014.
Molecular Function
This gene encodes a member of the DEAD box protein family. DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure, such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. The protein encoded by this gene is a component of the U5 snRNP complex; it may facilitate conformational changes in the spliceosome during nuclear pre-mRNA splicing.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Syndromic neurodevelopmental disorder associated with de novo variants in DDX23
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings
