ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.

ABSTRACT:

Background

Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N-glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple proteins. Congenital disorder of glycosylation causes multisystem defects usually with psychomotor delay that is diagnosed in the infancy. We aim to supply further evidences supporting that CDG may be underestimated.

Methods

Antithrombin and factor XI were studied by chromogenic and coagulometric methods. Hypoglycosylation of plasma proteins was evaluated by western blot, HPLC, Q-TOF, and RP-LC-MRM-MS. Genetic analysis included whole exome, Sanger sequencing, and PCR-allele specific assay.

Results

We here present an i

SUBMITTER: de la Morena-Barrio ME 

PROVIDER: S-EPMC7434597 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature