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Relevance to Autism

De novo missense variants in the PAK1 gene have been identified in patients presenting with a neurodevelopmental disorder characterized by developmental delay, intellectual disability, seizures, macrocephaly, and behavioral problems, including autism or autistic features (Harms et al., 2018; Kernohan et al., 2019; Horn et al., 2019).

Molecular Function

This gene encodes a family member of serine/threonine p21-activating kinases, known as PAK proteins. These proteins are critical effectors that link RhoGTPases to cytoskeleton reorganization and nuclear signaling, and they serve as targets for the small GTP binding proteins Cdc42 and Rac. This specific family member regulates cell motility and morphology.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
p21 protein-activated kinase 1 is associated with severe regressive autism, and epilepsy.
ASD, ID, epilepsy/seizures
Developmental regression, macrocephaly
Support
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.
DD, ID, epilepsy/seizures
Macrocephaly
Support
DD, ID, epilepsy/seizures
ASD, ADHD
Support
Integrating de novo and inherited variants in 42
ASD
Support
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center
DD, ID
Support
Autism risk in offspring can be assessed through quantification of male sperm mosaicism.
ASD
Recent Recommendation
De novo variants in PAK1 lead to intellectual disability with macrocephaly and seizures.
DD, ID, epilepsy/seizures
ASD or autistic features, ADHD, macrocephaly

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1127R001 
 missense_variant 
 c.362C>T 
 p.Pro121Leu 
 De novo 
  
  
 GEN1127R002 
 missense_variant 
 c.392A>G 
 p.Tyr131Cys 
 De novo 
  
  
 GEN1127R003 
 missense_variant 
 c.1286A>G 
 p.Tyr429Cys 
 De novo 
  
  
 GEN1127R004 
 missense_variant 
 c.1409T>G 
 p.Leu470Arg 
 De novo 
  
  
 GEN1127R005 
 missense_variant 
 c.397T>C 
 p.Ser133Pro 
 De novo 
  
  
 GEN1127R006 
 missense_variant 
 c.361C>T 
 p.Pro121Ser 
 De novo 
  
  
 GEN1127R007 
 missense_variant 
 c.328T>A 
 p.Ser110Thr 
 De novo 
  
  
 GEN1127R008 
 missense_variant 
 c.427A>G 
 p.Met143Val 
 De novo 
  
  
 GEN1127R009 
 missense_variant 
 c.1427T>C 
 p.Ile476Thr 
 De novo 
  
 Simplex 
 GEN1127R010 
 missense_variant 
 c.338C>T 
 p.Thr113Ile 
 De novo 
  
  
 GEN1127R011 
 missense_variant 
 c.427A>G 
 p.Met143Val 
 De novo 
  
  
  et al.  
 GEN1127R012 
 missense_variant 
 c.428T>C 
 p.Met143Thr 
 De novo 
  
  
  et al.  
 GEN1127R013 
 missense_variant 
 c.428T>A 
 p.Met143Lys 
 De novo 
  
  
  et al.  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
11
Duplication
 1
 
11
Deletion
 1
 

No Animal Model Data Available

 

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