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Relevance to Autism

Two de novo variants in the KDM4B gene (one nonsense, one damaging missense) were identified in ASD probands from the Autism Sequencing Consortium (De Rubeis et al., 2014). KDM4B was identified in Iossifov et al. 2015 as a strong candidate to be an ASD risk gene based on a combination of de novo mutational evidence and the absence or very low frequency of mutations in controls (PMID 26401017). Neuron-specific KDM4B-deficient mice exhibited defective spine maturation, hyperactive behavior, deficits in working memory, and spontaneous epileptic-like seizures (Fujiwara et al., 2016). Duncan et al., 2020 presented a cohort of nine individuals with heterozygous de novo or inherited variants in the KDM4B gene presenting with global developmental delay, with language and motor skills most severely affected, and dysmorphic features; autistic features were observed in one individual from this cohort.

Molecular Function

This gene encodes for a histone demethylase that specifically demethylates 'Lys-9' of histone H3 and is involved in chromatin organization and regulation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD
Support
The landscape of somatic mutation in cerebral cortex of autistic and neurotypical individuals revealed by ultra-deep whole-genome sequencing
ASD
Support
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent Recommendation
Heterozygous Variants in KDM4B Lead to Global Developmental Delay and Neuroanatomical Defects
DD
ID, epilepsy/seizures, ADHD, autistic features
Recent Recommendation
Deletion of JMJD2B in neurons leads to defective spine maturation, hyperactive behavior and memory deficits in mouse.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN819R001 
 stop_gained 
 c.2173C>T 
 p.Arg725Ter 
 De novo 
 NA 
  
 GEN819R002 
 missense_variant 
 c.958G>A 
 p.Val320Met 
 De novo 
 NA 
  
 GEN819R003 
 missense_variant 
 c.2023G>A 
 p.Ala675Thr 
 Familial 
 Maternal 
  
 GEN819R004 
 missense_variant 
 c.2596T>A 
 p.Cys866Ser 
 Familial 
 Paternal 
  
 GEN819R005 
 missense_variant 
 c.1688A>G 
 p.Glu563Gly 
 Familial 
 Paternal 
  
 GEN819R006 
 missense_variant 
 c.2063C>T 
 p.Thr688Met 
 Familial 
 Maternal 
  
 GEN819R007 
 missense_variant 
 c.473T>C 
 p.Leu158Pro 
 Unknown 
  
  
 GEN819R008 
 missense_variant 
 c.2547G>C 
 p.Lys849Asn 
 Unknown 
  
  
 GEN819R009 
 missense_variant 
 c.1336C>T 
 p.Arg446Trp 
 Unknown 
  
  
 GEN819R010 
 missense_variant 
 c.1336C>T 
 p.Arg446Trp 
 Unknown 
  
  
 GEN819R011 
 missense_variant 
 c.3284C>T 
 p.Pro1095Leu 
 De novo 
 NA 
 Simplex 
 GEN819R012 
 missense_variant 
 c.2303A>G 
 p.His768Arg 
 De novo 
 NA 
  
 GEN819R013 
 missense_variant 
 c.659T>C 
 p.Leu220Pro 
 De novo 
 NA 
 Simplex 
 GEN819R014 
 synonymous_variant 
 c.288C>T 
 p.Gly96%3D 
 De novo 
 NA 
 Simplex 
 GEN819R015 
 frameshift_variant 
 c.2221dup 
 p.Glu741GlyfsTer41 
 De novo 
 NA 
 Simplex 
 GEN819R016 
 frameshift_variant 
 c.1778_1779del 
 p.Glu593GlyfsTer41 
 Familial 
 Paternal 
  
 GEN819R017 
 missense_variant 
 c.664C>T 
 p.Arg222Trp 
 De novo 
 NA 
 Simplex 
 GEN819R018 
 frameshift_variant 
 c.371_374del 
 p.Lys124ThrfsTer48 
 De novo 
 NA 
  
 GEN819R019 
 splice_site_variant 
 c.1907-1G>C 
  
 Familial 
 Maternal 
  
 GEN819R020 
 missense_variant 
 ENSG00000127663:ENST00000159111:exon15:c.G2257A:p.G753R,ENSG00000127663:ENST00000536461:exon15:c.G23 
  
 De novo 
 NA 
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
19
Deletion-Duplication
 32
 
19
Duplication
 1
 
19
Duplication
 1
 
19
Deletion-Duplication
 9
 

No Animal Model Data Available

No PIN Data Available
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