What is the genetic inheritance pattern of Cohen syndrome?

Cohen syndrome is characterized by a specific genetic inheritance pattern that is autosomal recessive. This means that for an individual to express the syndrome, they must inherit two copies of the mutated gene, one from each parent. It is important to understand this pattern because it informs both the risk of passing the disorder to offspring and the implications for carrier testing in families.

In families where Cohen syndrome is present, both parents are often carriers of a single copy of the mutated gene but do not exhibit symptoms themselves. As a result, there is a 25% chance with each pregnancy that the child will inherit both copies of the mutated gene and thus express the syndrome.

Recognizing that Cohen syndrome is autosomal recessive is crucial for healthcare providers as they counsel families about inheritance, potential testing for relatives, and management options for affected individuals. This understanding also helps in identifying other conditions that reflect similar inheritance patterns, enabling comprehensive care for patients and families.