2024年12月24日 · DHX30 (DExH-Box Helicase 30) is a Protein Coding gene. Diseases associated with DHX30 include Neurodevelopmental Disorder With Variable Motor And Language Impairment and Neurodevelopmental Disorder With Severe Motor Impairment And …

DHX30 Syndrome, or NEDMIAL (Neurodevelopmental Disorder characterized with severe Motor Impairment and Absent Language), is an exceptionally rare neurodevelopmental disorder resulting from a DNA variant in the DHX30 gene. First identified in 2017.

2022年9月26日 · We identified DHX30, an ATP-dependent RNA helicase, as a FUS-interacting protein. DHX30 localizes mainly within the mitochondrial matrix, serves as a component of the mitochondrial RNA granule,...

Relocalizes to stress granules upon heat stress (PubMed: 29100085). An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, intellectual disability, speech impairment and gait abnormalities. Showing features for natural variant. We now provide the "Disease & Variants" viewer in its own tab.

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.

Here we identified six different de novo missense mutations in DHX30 in twelve unrelated individuals affected by global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities. While four mutations are recurrent, two are unique with one affecting the codon of one recurrent mutation.

2021年5月21日 · We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30 -associated neurodevelopmental disorder. Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators.

2025年2月19日 · De novo pathogenic DHX30 variants in two cases. Nutlin-Induced Apoptosis Is Specified by a Translation Program Regulated by PCBP2 and DHX30. A double-stranded RNA is required for the interaction between a host restriction factor DHX30 and the NS1 protein of influenza A virus.

2024年11月3日 · Clinical resource with information about DHX30, Neurodevelopmental disorder with severe motor impairment and absent language, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

DHX30 was recently implicated in the translation control of mRNAs involved in p53-dependent apoptosis. Here, we show that DHX30 exhibits a more general function by integrating the activities of its cytoplasmic isoform and of the more abundant mitochondrial one.