Cohen syndrome (COH1)

What is Cohen syndrome (COH1)?

Cohen syndrome is an inherited genetic condition and rare disease.

There are less than 1000 recorded cases of the syndrome to date, but as symptoms vary considerably between individuals, there may be many more unreported and undiagnosed cases.

This under diagnosis is due to the fact that the combination of some of the main symptoms- a very small head, truncal obesity and intellectual impairment- are also common to many other syndromes.

What gene changes cause Cohen syndrome (COH1)?

Mutations in the VPS13B gene, also sometimes known as the COH1 gene, are responsible for the disorder. The disease is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Cohen syndrome (COH1)?

The main symptoms of the syndrome include developmental delay and intellectual disability.

Physical and facial characteristics of the disorder include a small head, nearsightedness (myopia) that progressively gets worse, and a breakdown in the light sensitive tissue found at the back of the eyes.
Hypermobility is another major symptom.

Unique facial features include thick hair and eyebrows, long eyelashes, down slanting eyes, a large nasal tip, a smooth philtrum and large central, upper teeth.

Other health conditions associated with the syndrome include obesity beginning in adolescence, and low white blood cells.

How does someone get tested for Cohen syndrome (COH1)?

The initial testing for Cohen syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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