Homozygous loss-of-function variants in the GALNT2 gene were identified in seven individuals from four families presenting with a novel congenital disorder of O-linked glycosylation characterized by global developmental delay, intellectual disability with language deficit, autistic features, behavioral abnormalities, epilepsy, chronic insomnia, white matter changes on brain MRI, and dysmorphic features (Zilmer et al., 2020).
Molecular Function
This gene encodes a member of the glycosyltransferase 2 protein family that catalyzes the initial reaction in O-linked oligosaccharide biosynthesis, the transfer of an N-acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Loss of function in GALNT2 has been shown to result in lower high-density lipoproteins in humans, nonhuman primates, and rodents (Khetarpal et al., 2016).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function
