The WDR26 gene helps cells pass along signals that guide early growth and brain development. This gene plays an important role in how nerve cells grow and communicate. When a harmful variant disrupts the WDR26 gene, it can cause Skraban-Deardorff syndrome. People with this condition often have developmental delay, low muscle tone, and speech or learning difficulties, and some also have seizures, distinctive facial features, or autism traits.
What is a gene?
Genes are stretches of DNA that hold instructions your cells use to make molecules or manage processes in the body. Some genes carry the directions for producing proteins, the parts of cells that do the work. Others mainly regulate when certain processes happen, where they occur, and how active they are. Together, genes affect how the body develops and works, and they can influence how you respond to food, stress, or medications. For a deeper look at this topic, you can find more in the LearnHub.
Overview
WDR26Gene function
What if the gene works
The WDR26 gene helps cells pass along growth and development signals. Its protein acts like a helper platform that brings other proteins together, supporting normal brain development and other body functions.
Risk
What if the gene does not work
Variants in the WDR26 gene are linked to Skraban-Deardorff syndrome, a neurodevelopmental condition that can affect learning, speech, muscle tone, movement, and sometimes seizures. Effects can range from milder to more marked depending on the variant.
Treatment
What does that mean for your treatment
No treatment or management approach specific to the WDR26 gene is currently established. Care is guided by the person’s symptoms, rather than by a drug choice linked to a pathogenic variant in the WDR26 gene. The WDR26 gene is also being studied in cancer research as a possible biomarker and treatment target.
Conditions associated with WDR26
Gene function
What if the gene works
Your cells use the WDR26 gene as a helper that brings other proteins together at the right time. This supports everyday cell signaling, so cells can receive and pass along messages in an orderly way. These routine jobs reflect the normal function of the WDR26 gene in the body and help cells keep their internal balance.
The WDR26 gene helps bring proteins together so they can work as a coordinated team. This organizer role supports smooth communication inside cells.
Its protein helps pass along signals from the cell surface to the inner parts of the cell. These messages guide routine tasks such as growth, movement, and response to the environment.
WDR26 also joins a protein group that tags some unneeded proteins for breakdown and recycling. This helps cells keep a healthy balance of proteins from day to day.
What is a variant?
A genetic variant is a minor change in the DNA sequence within a gene. These changes are common and help account for normal differences among people, such as appearance, metabolism, and how the body responds to environmental influences. Many have no noticeable effect and simply represent natural genetic variation. In some situations, though, a variant changes how a gene works more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
In studies of how WDR26 gene variants affect protein function, many disease-causing changes in the WDR26 gene shorten the protein or lower the amount a cell can make. Other variants can change its shape, making it less stable or less able to bind partner proteins. More disruptive variants usually have a larger functional effect, while some single-letter variants may leave partial activity, which can contribute to differences in how early and how strongly Skraban-Deardorff syndrome appears.
How variants are linked to conditions
Pathogenic variants in the WDR26 gene cause Skraban-Deardorff syndrome, a rare condition that usually includes developmental delay, intellectual disability, low muscle tone, and speech difficulties. Many people also have distinctive facial features, behavior differences such as autism traits, or seizures. In everyday terms, the WDR26 gene and Skraban-Deardorff syndrome are linked strongly enough that finding a disease causing variant can confirm the diagnosis. Symptoms and severity can vary from person to person.
A variant is not necessarily a diagnosis
Genetic variants are a natural part of human biology, and they are common throughout the general population. Most have no direct impact on health and simply contribute to normal human diversity. For many genes, carrying a variant associated with a condition suggests a possible link rather than a definite diagnosis, especially when several genes and environmental factors are involved. In some cases, though, a single well-characterized variant in a particular gene can be enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For WDR26, risk is mainly tied to having a disease-causing change in the gene, rather than lifestyle or environmental factors. Most cases happen as a new genetic change, but risk can be higher in a family if a parent carries the variant, including in some cases only in some of their egg or sperm cells.
Inheritance of WDR26 variants
WDR26-related conditions are inherited in an autosomal dominant pattern, which means a child can be affected if they inherit one changed copy of the WDR26 gene from either parent. If a parent carries a disease-causing WDR26 variant, each pregnancy has a 50% chance of passing it on to the child. In many families, though, Skraban-Deardorff syndrome happens because of a new, de novo variant in the WDR26 gene, so the variant was not inherited from either parent. This explains how WDR26 variants are inherited from parent to child, while also covering cases that begin for the first time in one person.
What does my WDR26 result mean for my family?
WDR26-related syndrome is usually passed in a dominant way, so a parent with the same gene change can pass it to each child. In many families, though, the change is new in the affected person and is not found in either parent. Close relatives may still want to review the result with a genetics specialist, because the family impact depends on who else carries the same change.
Genetic information
Genetic testing
How you find out about variants
WDR26 genetic testing looks for variants in the WDR26 gene using a blood or saliva sample. A lab reads the DNA code, often as part of a broader gene test, and compares it with the usual sequence to find changes that may help explain a person’s features or confirm a diagnosis.
When should I consider getting a genetic test?
Genetic testing for the WDR26 gene may be worth discussing if a child has unexplained developmental delay, low muscle tone, speech delay, seizures, or learning problems, especially with similar features in the family. Finding a disease-causing change in WDR26 can help confirm a diagnosis and guide care.
A genetic result is only one part of your health story
A genetic result can be informative, although how much it reveals varies by the condition and the type of variant involved. How the body works over time is also shaped by many factors, including lifestyle, environment, age, and medical history. For some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is most useful when considered alongside other parts of care. In other situations, a genetic result may give a clear answer. In areas like medication response, genetic results can also help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. This helps explain why the same treatment works well for one person, has less effect in another, or causes more side effects in someone else. Small differences in genes can change how the body breaks down a drug, moves it through the body, or responds to it at its target, and these differences are a common part of normal human variation.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in genetics can affect a person’s response to medications. It studies the relationship between genes and drugs to help explain why the same treatment may work differently from one person to another. For many medicines, genes can influence both how strongly a drug works and how the body processes it. This information can support treatment decisions that are better informed and more individualized. You can learn more about this topic in the LearnHub.
Drugs influenced by the WDR26 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choice or dose. If you have concerns about side effects, how well a medicine is working, or a family history of unusual drug reactions, talk with your doctor or pharmacist.