SNP Shot: Genomic Insights

ALG1-CDG, also known as congenital disorder of glycosylation type Ik, is a genetic condition present from birth that affects multiple systems in the body. The severity of the condition varies among affected individuals.

Common features of ALG1-CDG include intellectual disability, developmental delays, and low muscle tone (hypotonia). Seizures, which can be challenging to manage, are also frequently observed. Furthermore, individuals may experience movement disorders such as tremors or ataxia.

ALG1-CDG often disrupts blood clotting processes, leading to either excessive clotting or bleeding. A weakened immune system due to low levels of antibodies, particularly IgG, is another common concern, making individuals more susceptible to infections.

Physical characteristics can include microcephaly, distinctive facial features, joint contractures, long, thin fingers and toes (arachnodactyly), and prominent pads on the fingertips and toes. Eye-related problems such as strabismus and nystagmus may also be present. In rare instances, vision may be impaired.

Less frequent complications associated with ALG1-CDG include respiratory issues, peripheral neuropathy, edema, and gastrointestinal problems.

While many individuals with ALG1-CDG experience severe symptoms and have a shortened lifespan, some individuals have milder symptoms and survive into adulthood.

Inheritance:

ALG1-CDG follows an autosomal recessive inheritance pattern. This means that both parents must carry a copy of the mutated gene for their child to inherit the condition. The parents themselves usually do not exhibit any signs or symptoms of ALG1-CDG.