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Relevance to Autism

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.
DD, ID
Autistic features
Support
Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN987R001 
 missense_variant 
 c.1478G>A 
 p.Arg493His 
 De novo 
 NA 
  
 GEN987R002 
 missense_variant 
 c.1478G>A 
 p.Arg493His 
 De novo 
 NA 
  
 GEN987R003 
 missense_variant 
 c.1685A>G 
 p.His562Arg 
 De novo 
 NA 
  
 GEN987R004 
 missense_variant 
 c.2342G>A 
 p.Gly781Asp 
 De novo 
 NA 
  
 GEN987R005 
 missense_variant 
 c.2342G>A 
 p.Gly781Asp 
 De novo 
 NA 
  
 GEN987R006 
 missense_variant 
 c.2260C>T 
 p.Arg754Trp 
 De novo 
 NA 
  
 GEN987R007 
 missense_variant 
 c.2344C>T 
 p.Arg782Trp 
 De novo 
 NA 
  
 GEN987R008 
 missense_variant 
 c.2344C>T 
 p.Arg782Trp 
 De novo 
 NA 
  
 GEN987R009 
 missense_variant 
 c.2269C>T 
 p.Arg757Cys 
 De novo 
 NA 
  
 GEN987R010 
 missense_variant 
 c.2353C>T 
 p.Arg785Cys 
 De novo 
 NA 
  
 GEN987R011 
 missense_variant 
 c.2353C>T 
 p.Arg785Cys 
 De novo 
 NA 
  
 GEN987R012 
 missense_variant 
 c.2354G>A 
 p.Arg785His 
 De novo 
 NA 
  
 GEN987R013 
 frameshift_variant 
 c.2491+2dup 
  
 Familial 
 Maternal 
 Multiplex (monozygotic twins) 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Deletion-Duplication
 14
 

No Animal Model Data Available

 

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