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EDEM3- related glycosylation disorder

EDEM3- related glycosylation disorder

OMIM number: n/a

Comments closing date: 05/03/2021

Congenital disorders of glycosylation (CDG) are a
genetically and clinically heterogeneous group of
over a hundred diseases caused by defects in
various steps along glycan synthesis or
modification pathways. Most of these monogenic
diseases are autosomal recessive in inheritance.
This application is for a novel CDG caused by the
EDEM3 gene, and also demonstrates recessive
inheritance. A family has presented to our PGD
service with a three year old child with this novel
condition. The National Organisation of Rare
Diseases (https://rarediseases.org/rarediseases/congenital-disorders-of-glycosylation/)
reports that despite the wide variety of symptoms
many CDGs have a significant neurological
impairment involving the central nervous system.
Common neurological symptoms include
diminished muscle tone (hypotonia), seizures,
developmental & physical disability,
underdevelopment of the cerebellum (part of
brain), causing problems with balance and
coordination. Feeding difficulties can be present,
leading to failure to thrive where children fail to
grow and gain weight as would be expected based
upon age and gender. Dependent on the specific
underlying genetic cause other clinical features
can be present as well. Patients presenting with
EDEM3 disorder of glycosylation have
neurodevelopmental delay and variable facial
dysmorphic features. A manuscript reporting these
findings and the underlying pathogenic
mechanism is currently under revision.

Review date: 5 February 2023