SNP Shot: Genomic Insights

Fucosidosis is a disorder impacting various bodily systems, particularly the brain. Individuals with fucosidosis experience intellectual disability that progresses over time, with many eventually developing dementia. Motor skill development, like walking, is often delayed, and acquired skills tend to decline. Other characteristics include impaired growth, abnormal bone development (dysostosis multiplex), seizures, spasticity (abnormal muscle stiffness), angiokeratomas (small, dark red spots on the skin formed by clusters of enlarged blood vessels), distinctive, often "coarse," facial features, frequent respiratory infections, and enlarged abdominal organs (visceromegaly).

In severe cases, symptoms typically manifest in infancy, and individuals generally survive until late childhood. In milder forms, symptoms begin around age 1 or 2, and affected individuals usually live into middle adulthood.

Previously, researchers categorized fucosidosis into two types based on symptom presentation and age of onset. However, current understanding views it as a single condition with a spectrum of severity in its signs and symptoms.

Inheritance:

Fucosidosis follows an autosomal recessive inheritance pattern. This means that both copies of the responsible gene in each cell must contain mutations for the condition to develop. Individuals with the condition inherit one mutated gene copy from each parent. These parents, known as carriers, typically do not exhibit any signs or symptoms of the disorder themselves.