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Relevance to Autism

Two non-synonymous postzygotic mosaic mutations (PZMs) in the KLF16 gene were identified in ASD probands in Lim et al., 2017; comparison with a background set of 84,448 privately inherited variants demonstrated that this gene harbored more PZMs than expected genome-wide based on background rates (2/571 observed vs. 0/84,448 expected; hypergeometric P-value < 1.0E-06).

Molecular Function

This gene encodes a transcription factor that binds GC and GT boxes and displaces Sp1 and Sp3 from these sequences. Modulates dopaminergic transmission in the brain

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN920R001 
 missense_variant 
 c.550G>A 
 p.Glu184Lys 
 De novo 
 NA 
 Simplex 
 GEN920R002 
 missense_variant 
 c.536G>C 
 p.Arg179Pro 
 De novo 
 NA 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 32
 
19
Deletion-Duplication
 9
 

No Animal Model Data Available

 

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