What Your Test Results Mean:

Carriers typically show no symptoms of Cohen syndrome; however, carriers are at an increased risk of having a child with Cohen syndrome. Risk for the current or future pregnancies is dependent on your partner’s carrier status. Carrier testing of your partner is recommended in addition to consultation with a genetic counselor.

Disease Explained:

Cohen syndrome is an inherited disorder characterized by developmental delay, intellectual disability, small head size, and weak muscle tone. Other features include progressive nearsightedness, degeneration of the light-sensitive tissue at the back of the eye, hypermobility, neutropenia, and distinctive facial features. Management of Cohen syndrome is supportive.

How the Genetics Works:

Cohen syndrome is an autosomal recessive disorder caused by pathogenic variants in the VPS13B gene. In general, individuals have two copies of the VPS13B gene. Carriers of Cohen syndrome have a single variant in one copy of the VPS13B gene, while individuals with Cohen syndrome have variants in both copies of the VPS13B gene, one inherited from each parent. Risk for two carriers to have a child with the disorder is 25%.