Bi-allelic variants in the ER quality-control mannosidase gene EDEM3 cause a congenital disorder of glycosylation.

ABSTRACT: EDEM3 encodes a protein that converts Man₈GlcNAc₂ isomer B to Man_7-5GlcNAc₂. It is involved in the endoplasmic reticulum-associated degradation pathway, responsible for the recognition of misfolded proteins that will be targeted and translocated to the cytosol and degraded by the proteasome. In this study, through a combination of exome sequencing and gene matching, we have identified seven independent families with 11 individuals with bi-allelic protein-truncating variants and one individual with a compound heterozygous missense variant in EDEM3. The affected individuals present with an inherited congenital disorder of glycosylation (CDG) consisting of neurodevelopmental delay and variable facial dysmorphisms. Experiments in human fibroblast cel

SUBMITTER: Polla DL 

PROVIDER: S-EPMC8322938 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature