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Relevance to Autism

Two individuals with missense variants affecting the p.Arg13 residue of KIF1A were shown to have diagnoses of ASD and ADHD in addition to spasticity (Tomaselli et al., 2017; Kurihara et al., 2020). Phenotypic characterization of 117 individuals with KIF1A Associated Neurological Disorder (KAND) in Boyle et al., 2021 determined that autism was observed in 20% (16/80) individuals from whom information was available. A total of three de novo missense variants in KIF1A (one of which was mosaic) have been identified in ASD probands from the Simons Simplex Collection and the Autism Sequencing Consortium (Iossifov et al., 2014; Krupp et al., 2017; Satterstrom et al., 2020).

Molecular Function

The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30, hereditary sensory neuropathy IIC, and NESCAV syndrome.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder
ASD, ADHD
DD
Support
The contribution of de novo coding mutations to autism spectrum disorder
ASD
Support
Clinical Targeted Panel Sequencing Analysis in Clinical Evaluation of Children with Autism Spectrum Disorder in China
ASD
Support
Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability
ID
Support
DD
Support
Exome Sequencing in 200 Intellectual Disability/Autistic Patients: New Candidates and Atypical Presentations
ID
DD, epilepsy/seizures
Support
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
ASD
Support
A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia
ASD, ADHD
ID, epilepsy/seizures
Support
Integrating de novo and inherited variants in 42
ASD
Support
Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder.
ASD
Support
Comprehensive genome sequencing analyses identify novel gene mutations and copy number variations associated with infant developmental delay or intellectual disability (DD/ID)
DD, ID
Recent Recommendation
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder
KIF1A-associated neurological disorder (KAND)
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1243R001 
 missense_variant 
 c.38G>A 
 p.Arg13His 
 De novo 
  
 Simplex 
 GEN1243R002 
 missense_variant 
 c.37C>T 
 p.Arg13Cys 
 De novo 
  
 Simplex 
 GEN1243R003 
 missense_variant 
 c.3671G>A 
 p.Arg1224Gln 
 De novo 
  
 Simplex 
 GEN1243R004 
 missense_variant 
 c.655G>A 
 p.Ala219Thr 
 De novo 
  
 Simplex 
 GEN1243R005 
 missense_variant 
 c.4798G>T 
 p.Gly1600Cys 
 De novo 
  
  
 GEN1243R006 
 missense_variant 
 c.37C>T 
 p.Arg13Cys 
 De novo 
  
  
 GEN1243R007 
 missense_variant 
 c.914C>T 
 p.Pro305Leu 
 De novo 
  
  
 GEN1243R008 
 missense_variant 
 c.914C>T 
 p.Pro305Leu 
 De novo 
  
  
 GEN1243R009 
 missense_variant 
 c.38G>A 
 p.Arg13His 
 De novo 
  
  
 GEN1243R010 
 missense_variant 
 c.1924G>A 
 p.Asp642Asn 
 Unknown 
  
  
 GEN1243R011 
 missense_variant 
 c.2231A>G 
 p.Glu744Gly 
 De novo 
  
  
 GEN1243R012 
 missense_variant 
 c.575T>G 
 p.Ile192Ser 
 De novo 
  
 Simplex 
 GEN1243R013 
 missense_variant 
 c.142A>C 
 p.Lys48Gln 
 De novo 
  
 Multiplex 
 GEN1243R014 
 synonymous_variant 
 c.5136G>A 
 p.Glu1712%3D 
 De novo 
  
  
 GEN1243R015 
 synonymous_variant 
 c.4716C>T 
 p.His1572%3D 
 De novo 
  
  
 GEN1243R016 
 synonymous_variant 
 c.5130C>T 
 p.Phe1710%3D 
 De novo 
  
 Simplex 
 GEN1243R017 
 missense_variant 
 c.5015G>A 
 p.Arg1672Gln 
 De novo 
  
 Simplex 
 GEN1243R018 
 missense_variant 
 c.1985G>C 
 p.Arg662Pro 
 Unknown 
  
 Simplex 
 GEN1243R019 
 missense_variant 
 c.694G>A 
 p.Ala232Thr 
 Unknown 
  
 Simplex 
 GEN1243R020 
 missense_variant 
 c.3728C>T 
 p.Ala1243Val 
 Unknown 
  
  
  et al.  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
2
Duplication
 1
 
2
Duplication
 1
 
2
Duplication
 1
 
2
Deletion-Duplication
 2
 
2
Deletion
 10
 
2
Deletion
 9
 
2
Deletion-Duplication
 59
 

No Animal Model Data Available

 

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