KDM4Clysine demethylase 4C
Autism Reports / Total Reports1 / 1
Rare Variants / Common Variants2 / 0
AliasesKDM4C, GASC1, JHDM3C, JMJD2C, TDRD14C
Genetic CategoryRare Single Gene Mutation
Relevance to Autism
CNV analysis of 1,108 ASD cases, 2,458 schizophrenia (SCZ) cases, and 2,095 controls from a Japanese population in Kushima et al., 2018 demonstrated that significant enrichment of exonic CNVs affecting the KDM4C gene was observed in a combined cohort of ASD and SCZ cases compared to controls [3 CNVs from ASD cases and 6 CNVs from SCZ cases (9 total) vs. 0 CNVs in controls (Odds ratio 10.46, P = 8.6E-03)].
This gene is a member of the Jumonji domain 2 (JMJD2) family. The encoded protein is a trimethylation-specific demethylase, and converts specific trimethylated histone residues to the dimethylated form. This enzymatic action regulates gene expression and chromosome segregation.
Reports related to KDM4C (1 Reports)
|#||Type||Title||Author, Year||Autism Report||Associated Disorders|
|1||Primary||Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights.||Kushima I , et al. (2018)||Yes||-|
Rare Variants (2)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|-||-||copy_number_gain||Unknown||-||-||30208311||Kushima I , et al. (2018)|
|-||-||copy_number_loss||Unknown||-||-||30208311||Kushima I , et al. (2018)|
No common variants reported.
CNVs associated with KDM4C(1 CNVs)
|9p24.1||27||Deletion-Duplication||44 / 311|