SNP Shot: Genomic Insights

COG5-congenital disorder of glycosylation (COG5-CDG), previously called congenital disorder of glycosylation type IIi, is a genetic condition passed down through families. It leads to neurological issues and other health problems. The specific symptoms and how severe they are can differ from person to person.

Typically, symptoms of COG5-CDG appear in infancy. Common signs include low muscle tone (hypotonia) and developmental delays. Neurological problems frequently include moderate to severe intellectual disability, poor coordination, and trouble walking. Some individuals with this condition may never learn to talk. Other features can include short stature, a smaller than normal head size (microcephaly), and characteristic facial features, such as low-set and rotated ears, a short neck with a low hairline, and a prominent nose. In some cases, individuals may also experience hearing loss due to inner ear problems (sensorineural hearing loss), vision problems, issues with bladder control due to nerve damage (neurogenic bladder), liver problems, and stiffening of the joints (contractures).

Inheritance:

COG5-CDG is an autosomal recessive disorder. This means that for a person to have the condition, they must inherit a mutated copy of the responsible gene from both parents. The parents, who each carry only one copy of the mutated gene, usually do not show any signs or symptoms of the condition themselves.