SNP Shot: Genomic Insights

Alström syndrome is an uncommon disorder affecting multiple organs and systems throughout the body. While many symptoms manifest during infancy or early childhood, some may not appear until later in life.

Key features of Alström syndrome include gradually worsening vision and hearing, dilated cardiomyopathy (a heart condition where the heart muscle becomes enlarged and weakened), obesity, type 2 diabetes, and reduced height. The syndrome can also lead to significant medical complications affecting the liver, kidneys, bladder, and lungs, potentially posing life-threatening risks. Some individuals with Alström syndrome exhibit acanthosis nigricans, a skin condition characterized by thick, darkened, velvety skin in body creases and folds. The severity of Alström syndrome symptoms varies from person to person, and not every individual with the syndrome will experience all of its typical characteristics.

Inheritance:

Alström syndrome follows an autosomal recessive inheritance pattern. This means that for an individual to develop the condition, both copies of the relevant gene in each cell must carry mutations. Individuals with one copy of the mutated gene are carriers; they usually do not exhibit any signs or symptoms of Alström syndrome, but can pass the mutated gene to their children.