SNP Shot: Genomic Insights

NGLY1-CDDG, or NGLY1-congenital disorder of deglycosylation, is a genetic condition that impacts numerous bodily systems. The range of symptoms and their intensity can differ significantly from person to person.

The characteristics of NGLY1-CDDG usually appear in infancy. Common symptoms include delays in speech and motor development, such as difficulties with sitting and walking, and decreased muscle tone (hypotonia). Many individuals affected by NGLY1-CDDG experience movement disorders, like involuntary limb movements (choreoathetosis), and some may develop intractable seizures. Liver problems can also occur in individuals with NGLY1-CDDG. Some may have eye issues, including optic atrophy (degeneration of the optic nerves) and retinal changes. Reduced or absent tear production (hypolacrima or alacrima) is a frequent finding in NGLY1-CDDG.

Inheritance:

NGLY1-CDDG follows an autosomal recessive inheritance pattern. This means that a mutation must be present in both copies of the NGLY1 gene in each cell for the condition to manifest. Both parents of an individual with NGLY1-CDDG typically carry one copy of the mutated gene, but generally do not exhibit any signs or symptoms of the disorder themselves.