Updated clinical and glycomic features of mannosyl-oligosaccharide glucosidase deficiency: Two case reports.

ABSTRACT:

Background

Mannosyl-oligosaccharide glucosidase (MOGS) deficiency is an extremely rare type of congenital disorder of glycosylation (CDG), with only 12 reported cases. Its clinical, genetic, and glycomic features are still expanding. Our aim is to update the novel clinical and glycosylation features of 2 previously reported patients with MOGS-CDG.

Case summary

We collected comprehensive clinical information, and conducted the immunoglobulin G1 glycosylation assay using nano-electrospray ionization source quadruple time-of-flight mass spectrometry. Novel dysmorphic features included an enlarged tongue, forwardly rotated earlobes, a birth mark, overlapped toes, and abnormal fat distribution. Novel imaging findings included pericardial effusion, a deep interarytenoid groove, mi

SUBMITTER: Abuduxikuer K 

PROVIDER: S-EPMC9353930 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature