SNP Shot: Genomic Insights

Grange syndrome is an uncommon disorder that mainly impacts blood vessels. Its defining features are the constriction (stenosis) or complete obstruction (occlusion) of arteries that deliver blood to essential organs and tissues like the kidneys, brain, and heart. Specifically, stenosis or occlusion of the renal arteries, which supply the kidneys, can lead to long-term high blood pressure (hypertension). When cerebral arteries, responsible for carrying blood to the brain, are blocked, a stroke can occur.

Other possible characteristics of Grange syndrome include unusually short fingers and toes (brachydactyly), the joining together of fingers or toes (syndactyly), easily fractured bones, and difficulties with learning. Congenital heart defects, meaning heart problems present at birth, are also common in individuals with this syndrome.

Inheritance:

It is believed that this condition follows an autosomal recessive inheritance pattern. This means that to develop Grange syndrome, an individual must inherit two mutated copies of the YY1AP1 gene, one from each parent. Typically, the parents who each carry a single copy of the mutated gene do not exhibit any symptoms or signs of the condition themselves.