GALNT8polypeptide N-acetylgalactosaminyltransferase 8
Autism Reports / Total Reports1 / 1
Rare Variants / Common Variants1 / 0
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 GALNT8 gene was observed in a combined cohort of ASD and SCZ cases compared to controls [2 CNVs from ASD cases and 5 CNVs from SCZ cases (7 total) vs. 0 CNVs in controls (Odds ratio 9.05, P = 1.0E-05)].
This gene encodes a member of the UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase (GalNAc-T) family of enzymes. GalNAc-Ts initiate mucin-type O-linked glycosylation in the Golgi apparatus by catalyzing the transfer of GalNAc to serine and threonine residues on target proteins.
Reports related to GALNT8 (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 (1)
|Status||Allele Change||Residue Change||Variant Type||Inheritance Pattern||Parental Transmission||Family Type||PubMed ID||Author, Year|
|-||-||copy_number_loss||Unknown||-||-||30208311||Kushima I , et al. (2018)|
No common variants reported.
CNVs associated with GALNT8(1 CNVs)
|12p13.32||11||Deletion-Duplication||21 / 28|