Short answer · Medically reviewed summary · Last updated: 2026-05-08
Cohen Syndrome is a rare genetic disorder caused by mutations in the VPS13B (formerly COH1) gene, which plays a critical role in intracellular protein trafficking. It is an autosomal recessive condition, meaning an individual must inherit two copies of the mutated gene—one from each parent—to develop Cohen Syndrome. What causes Cohen Syndrome at the genetic level? Cohen Syndrome is primarily caused by pathogenic variants in the VPS13B gene located on chromosome 8q22.2.
3 people with Cohen Syndrome have shared their first-person experience on this question at DiseaseMaps.
Which are the causes of Cohen Syndrome?
Causes of Cohen Syndrome explained: genetic and environmental factors, reviewed against medical sources, plus patient perspectives.
Cohen Syndrome is a rare genetic disorder caused by mutations in the VPS13B (formerly COH1) gene, which plays a critical role in intracellular protein trafficking. It is an autosomal recessive condition, meaning an individual must inherit two copies of the mutated gene—one from each parent—to develop Cohen Syndrome.
What causes Cohen Syndrome at the genetic level?
Cohen Syndrome is primarily caused by pathogenic variants in the VPS13B gene located on chromosome 8q22.2. Think of this gene as an instruction manual for a cell’s internal shipping department. When the VPS13B gene is mutated, the cell struggles to transport proteins correctly between different compartments, specifically within the Golgi apparatus. This disruption in cellular "logistics" leads to the multisystem clinical presentation characteristic of Cohen Syndrome, including developmental delays and distinct craniofacial features.
Is Cohen Syndrome hereditary?
Yes, Cohen Syndrome follows an autosomal recessive inheritance pattern. This means that if both parents are carriers of a VPS13B mutation, there is a 25% chance with each pregnancy that the child will be born with Cohen Syndrome. Because it is genetic, there are no known environmental triggers, infections, or autoimmune processes that cause the condition.
Are there different types of risk factors?
It is important to distinguish between causes and risk factors in Cohen Syndrome:
- Genetic Cause: The specific mutation in the VPS13B gene is the direct cause.
- Risk Factors: The primary risk factor is family history and ethnicity. Cohen Syndrome has been identified in diverse populations worldwide, but it is notably more prevalent in specific founder populations, such as the Finnish population and those of Mediterranean Jewish ancestry.
What is the current state of research?
Research is ongoing to understand exactly how VPS13B protein dysfunction leads to specific symptoms like neutropenia (low white blood cell count) and retinal dystrophy. Scientists are currently using cellular models to explore potential therapies that could stabilize protein transport pathways.
Next steps
- Consult a clinical geneticist for formal diagnostic testing and family counseling.
- Connect with the 118 members of the Cohen Syndrome community on DiseaseMaps.org to share experiences.
- Monitor updates on clinical trials via the NIH/GARD database to stay informed about emerging research.
Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Cohen Syndrome
- Orphanet: Cohen Syndrome (ORPHA:193)
- OMIM (Online Mendelian Inheritance in Man): #216550
- PubMed: "VPS13B and the pathogenesis of Cohen Syndrome" (Peer-reviewed literature)
Although the exact cause of Cohen syndrome is unknown, some people with the condition have been found to have mutations in a gene called COH1 (also referred to as VPS13B). When Cohen syndrome is found to be inherited in families, it follows an autosomal recessive pattern. No cure is currently available; however, treatment for Cohen syndrome is focused on improving or alleviating signs and symptoms as they arise.
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