The VPS13B gene helps cells organize and move proteins to the right place, which supports growth, brain development, vision, and healthy white blood cells. This gene plays an important role in how cells keep their internal shipping system working smoothly. When both copies carry pathogenic variants, it can cause Cohen syndrome, which may involve low muscle tone, developmental delay, eye problems, joint looseness, small head size, and periods of low neutrophils, a type of infection-fighting white blood cell.
What is a gene?
Genes are stretches of DNA that hold instructions your cells use to make molecules or regulate processes in the body. Some genes carry the instructions for producing proteins, the parts of cells that do the work. Other genes mainly help direct when certain processes happen, where they happen, and how strongly they run. Taken together, genes affect how the body develops and works, and they can influence how you respond to food, stress, or medications. For a more detailed look at this topic, you can find more in the LearnHub.
Overview
VPS13BGene function
What if the gene works
The VPS13B gene helps cells sort and move proteins and maintain the Golgi apparatus, a cell compartment that processes and ships materials. This supports normal growth, brain development, and many day to day cell functions.
Risk
What if the gene does not work
More disruptive variants in the VPS13B gene are a well-known cause of Cohen syndrome, which often affects development, muscle tone, vision, and blood cell counts. Milder or different variants can change when features appear and how strongly they affect life.
Treatment
What does that mean for your treatment
No VPS13B-specific treatment or medication strategy is currently established. Treatment is guided by a person’s symptoms and routine clinical needs, not by a VPS13B-specific drug choice.
Conditions associated with VPS13B
Gene function
What if the gene works
Inside many cells, the VPS13B gene supports the routine work of organizing and moving proteins. It is especially important around the Golgi apparatus, a cell structure that acts like a shipping center. Understanding how the VPS13B gene works in cells helps show how proteins are packaged, finished, and sent where they are needed.
The VPS13B gene helps keep the Golgi apparatus (the cell's shipping center) organized. This gives cells a stable place to package and route many proteins and fats.
Inside your cells, the VPS13B gene helps sort protein cargo into small transport packets. These packets can then travel to the right cell compartment or to the cell surface.
By supporting normal Golgi activity, the VPS13B gene helps proteins receive sugar additions called glycosylation (small sugar tags that help proteins fold, travel, and interact properly). This supports routine cell communication and upkeep.
What is a variant?
A genetic variant is a minor change in a gene’s DNA sequence. These changes are common and help shape normal differences among people, including appearance, metabolism, and the way the body responds to environmental influences. Many have no noticeable effect and simply represent natural genetic variation. Sometimes, though, a variant changes how a gene works more substantially and can contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
In the VPS13B gene, variants can alter the protein’s shape, stability, or ability to move proteins to the right place inside the cell, so it may be broken down early or work less well. More disruptive variants, including early stop, splice, or deletion changes, often lead to little or no working protein. Some missense variants may leave partial activity. This helps explain how variants in the VPS13B gene affect protein function and why Cohen syndrome can vary in when features appear and how marked they are.
How variants are linked to conditions
Pathogenic variants in both copies of the VPS13B gene cause Cohen syndrome, a rare inherited condition. In VPS13B gene Cohen syndrome, people often have developmental delay, low muscle tone, flexible joints, vision problems, and periods of low white blood cells. Features can vary from person to person, even within the same family.
A variant is not necessarily a diagnosis
Genetic variants are common in the general population and are a normal feature of human biology. Most do not directly affect health and simply reflect natural human diversity. For many genes, carrying a variant associated with a condition suggests a possible link rather than a definite diagnosis, especially when multiple genes and environmental factors are involved. In some cases, though, a single well-characterized variant in a specific gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
There isn't yet broadly confirmed evidence on specific factors that increase or reduce risk related to the VPS13B gene. For families with a known VPS13B-related condition, risk is shaped mainly by whether a child inherits altered copies of the gene from both parents, rather than by lifestyle or everyday exposures.
Inheritance of VPS13B variants
For families asking about VPS13B inheritance, disease-causing variants in the VPS13B gene are inherited in an autosomal recessive pattern. This means a child usually inherits one altered copy from each parent, and the parents are typically healthy carriers. When both parents carry a VPS13B variant, each pregnancy has a 25% chance of the child inheriting both altered copies, a 50% chance of being a carrier, and a 25% chance of inheriting neither altered copy. This inheritance pattern is the well-established pattern for VPS13B-related Cohen syndrome.
What does my VPS13B result mean for my family?
For families with a VPS13B-related condition, the pattern is usually recessive, which means parents are often healthy carriers and brothers or sisters may also be affected or be carriers. Close relatives may want to learn whether the change runs in the family, especially when planning children. The chance for relatives depends on whether they carry the same VPS13B change.
Genetic information
Genetic testing
How you find out about variants
To look for changes in the VPS13B gene, genetic testing for VPS13B variants usually examines DNA from a blood or saliva sample. A lab reads the gene's code and may also check for missing or extra pieces, then reports whether a variant was found and how it is classified.
When should I consider getting a genetic test?
Genetic testing for VPS13B can be worth considering when a child has signs that fit Cohen syndrome, such as developmental delay, low muscle tone, vision problems, or a history of frequent infections, especially if similar features run in the family. It can also help when a family already knows about a change in VPS13B.
A genetic result is only one part of your health story
A genetic result can be helpful, but what it shows depends on the condition and the kind of variant involved. Factors including lifestyle, environment, age, and medical history also influence how the body functions over time. For some conditions, especially those shaped by many genes, genetic information offers context rather than certainty and is best viewed together with other parts of care. In other situations, a genetic result may give a clear answer. In areas such as medication response, genetic results can also help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can influence how your body responds to medicines. Small differences in DNA can affect how a drug is absorbed, broken down, moved through the body, or how strongly it acts on its target. This helps explain why the same treatment works well for one person, seems less helpful for another, or causes more side effects in someone who is more sensitive to it.
What is Pharmacogenetics?
Pharmacogenetics examines the ways genetic differences shape how people respond to medicines. By studying links between genes and medications, it helps explain why the same treatment can affect one person differently than another. With many drugs, genes influence both how powerfully a medicine works and how the body handles it. This information can support treatment choices that are better informed and more tailored to the individual. To look more deeply into this subject, more information is available in the LearnHub.
Drugs influenced by the VPS13B gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting how medicines will work or which side effects are more likely. Questions about medicines, new side effects, or changes in your health are best discussed with your doctor.
History
VPS13B entered medical genetics through studies of Cohen syndrome, a condition first recognized from shared clinical features in affected families. Initially understood only through visible traits, later recognized as tied to a specific gene, the condition was linked to the VPS13B gene in the early 2000s, when researchers identified disease causing variants and the older name COH1 was widely used. From these first observations, research expanded steadily. This discovery helped confirm that people who seemed to have the same condition could share a common genetic cause even when symptoms varied from one family to another. Over time, descriptions became more precise, and VPS13B became part of the broader story of how gene mapping improved diagnosis for rare inherited conditions.