Lessel et al., 2017 identified six different de novo missense variants in the DHX30 gene in 12 unrelated individuals affected by a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, severe speech impairment, hypotonia, and gait abnormalities; in addition to these core phenotypes, seven individuals also presented with autistic features.
Molecular Function
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. Based on their distribution patterns, some members of this DEAD box protein family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. The family member encoded by this gene is a mitochondrial nucleoid protein that associates with mitochondrial DNA. It has also been identified as a component of a transcriptional repressor complex that functions in retinal development, and it is required to optimize the function of the zinc-finger antiviral protein.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
