What is the genetic inheritance pattern of Wilson's disease?

Wilson's disease is a genetic disorder characterized by excessive accumulation of copper in the body, primarily affecting the liver and brain. The condition follows an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disease. The gene responsible for Wilson's disease is ATP7B, which is involved in copper transport and metabolism.

In autosomal recessive conditions, carriers of only one copy of the mutant gene do not exhibit symptoms of the disease, thereby allowing the disorder to remain hidden in populations. The probability of two carriers having an affected child is 25%, while each child has a 50% chance of being a carrier and a 25% chance of being unaffected.

Understanding the genetic inheritance pattern of Wilson’s disease is crucial for clinicians in conducting appropriate genetic counseling and risk assessment for families that may be affected or at risk. The autosomal recessive nature of this condition helps in recognizing potential carriers within a family lineage.