Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.

ABSTRACT:

Purpose

To summarise the clinical, molecular and biochemical phenotype of mannosyl-oligosaccharide glucosidase-related congenital disorders of glycosylation (MOGS-CDG), which presents with variable clinical manifestations, and to analyse which clinical biochemical assay consistently supports diagnosis in individuals with bi-allelic variants in MOGS.

Methods

Phenotypic characterisation was performed through an international and multicentre collaboration. Genetic testing was done by exome sequencing and targeted arrays. Biochemical assays on serum and urine were performed to delineate the biochemical signature of MOGS-CDG.

Results

Clinical phenotyping revealed heterogeneity in MOGS-CDG, including neurological, immunological and skeletal phenotypes. Bi-allelic var

SUBMITTER: Shimada S 

PROVIDER: S-EPMC9813274 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature