Your cells depend on the WDR35 gene when they need to build and maintain cilia, tiny hair-like structures that help cells sense signals and support normal growth. If the gene does not work properly, those signals can be disrupted, which may lead to a rare inherited condition affecting bone growth, the shape of the head and face, teeth, nails, and sometimes the kidneys, liver, or eyes. People with harmful variants in the WDR35 gene may be diagnosed with cranioectodermal dysplasia, one of a group of conditions called ciliopathies.
What is a gene?
Genes are stretches of DNA that carry instructions your cells use to make molecules or control processes in the body. Some genes provide the directions for making proteins, the parts of cells that do the work. Other genes mainly regulate when certain processes happen, where they happen, and how strongly they occur. Together, genes affect how the body develops and functions, and they can also shape how you respond to food, stress, or medications. For a more detailed look at this topic, you can read more in the LearnHub.
Overview
WDR35Gene function
What if the gene works
The WDR35 gene helps cells build and maintain cilia, tiny structures that sense signals. Cilia help guide growth and how organs such as the skeleton, eyes, kidneys, and brain develop.
Risk
What if the gene does not work
Variants in the WDR35 gene can cause conditions affecting bone growth and chest shape, and sometimes the teeth, hair, nails, kidneys, liver, or eyes. Milder and severe variants can influence timing, the mix of features, and overall severity.
Treatment
What does that mean for your treatment
No WDR35-specific treatment or management approach is currently established for people with a pathogenic variant in the WDR35 gene. Care is guided by the person’s symptoms and affected organs rather than by a gene-directed drug choice. The WDR35 gene is being studied in ciliopathy research, but this has not yet led to guideline-based therapies.
Conditions associated with WDR35
Gene function
What if the gene works
Many cells in your body use tiny structures called cilia that act like antennas. The WDR35 gene helps build and run these structures. This helps explain what the WDR35 gene does in the body each day. It supports cell sensing and signal handling.
The WDR35 gene helps cells assemble cilia, which are tiny projections on the cell surface. These structures let cells sense their surroundings and organize signals from nearby tissues.
Inside cilia, the WDR35 gene's protein is part of a transport team that carries materials to the right place. This steady movement helps cilia keep their shape and continue their routine work.
By keeping cilia working smoothly, the WDR35 gene helps cells receive and pass along signals that guide normal growth. These signals help tissues form in the right places and stay coordinated over time.
What is a variant?
A genetic variant is a small difference in the DNA sequence of a gene. These differences are common and are part of normal human diversity, including variation in appearance, metabolism, and how the body responds to environmental influences. Many variants have no noticeable effect and simply represent natural genetic variation. In some cases, however, a variant can change how a gene works more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the WDR35 gene can make the protein unstable, alter its shape, or disrupt how it joins the transport machinery inside primary cilia. Some WDR35 gene variants still allow partial activity, while more disruptive variants can leave little or no working protein. This stronger or weaker loss of function can disturb cilia signaling to different degrees and may influence how early and how severely WDR35-related ciliopathy features appear.
How variants are linked to conditions
Pathogenic variants in the WDR35 gene are best known for causing cranioectodermal dysplasia, also called Sensenbrenner syndrome, a rare inherited condition that can affect growth, the skeleton, kidneys, liver, eyes, hair, and teeth. In people being assessed for variants in the WDR35 gene linked to conditions such as Sensenbrenner syndrome, finding pathogenic variants in both copies of the gene can confirm the diagnosis. Reported features can vary from one person to another, even within the same family.
A variant is not necessarily a diagnosis
Genetic variants are a common and expected part of human biology. Most do not directly affect health and simply contribute to normal human variation. In many genes, having a variant associated with a condition points to a possible link rather than a certain diagnosis, particularly when several genes and environmental influences also play a role. In other situations, though, one well understood variant in a particular gene is enough to confirm the diagnosis.
Are there things that can increase or change my risk?
There is not yet broadly confirmed evidence on specific factors that increase or reduce health risks related to the WDR35 gene. In families with disease-causing changes in both copies of WDR35, the main risk is set by the genetic changes themselves, while day-to-day habits have not been shown to meaningfully change that risk.
Inheritance of WDR35 variants
For families looking into how WDR35 gene variants are inherited, the well-established pattern is autosomal recessive. This means a person usually inherits one changed copy of the WDR35 gene from each parent. Parents who each carry one variant often do not have the condition themselves, but with each pregnancy there is a 25% chance the child will inherit both variants, a 50% chance the child will be a carrier, and a 25% chance the child will inherit neither variant. This inheritance pattern is the one linked to WDR35-related conditions.
What does my WDR35 result mean for my family?
For families with a disease-causing WDR35 result linked to a known WDR35-related condition, the pattern is usually recessive, which often means parents are healthy carriers and brothers or sisters may also be affected or carry the same gene change. Other relatives may also be carriers, especially on both sides of the family. This can matter for future pregnancies and for relatives who are planning children.
Genetic information
Genetic testing
How you find out about variants
WDR35 genetic testing usually uses a blood or saliva sample to read the DNA in the WDR35 gene and look for variants. It may be done as part of a test that checks many genes at once or a broader DNA test. Results can show a disease causing variant, a benign change, or an uncertain finding.
When should I consider getting a genetic test?
Genetic testing for the WDR35 gene may be worth considering when a child has signs of a rare inherited condition that affects bone growth, teeth or hair, and sometimes the kidneys, liver, or eyes. It can also help when these problems run in the family or when both parents are known carriers.
A genetic result is only one part of your health story
A genetic finding can provide useful insight, yet how much it explains varies depending on the condition and the kind of variant involved. Many factors also shape how the body works over time, 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 viewed alongside other parts of care. In other situations, a genetic result can provide a clear answer. In areas like medication response, genetic results can also help put individual experiences into perspective.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Some people break down a drug more slowly or more quickly, so the same dose can lead to different effects from one person to another. This can influence how well a treatment works or how likely someone is to have side effects. These differences are common and are one reason medication response can vary even when people take the same medicine in the same way.
What is Pharmacogenetics?
Pharmacogenetics is the area of study focused on how genetic differences can shape a person’s response to medications. It examines connections between genes and drugs to help explain why the same treatment may work differently in different people. For many medicines, genes influence both how strongly a drug works and how the body processes it. This understanding can support treatment decisions that are more informed and more individualized. More information on this topic is available in the LearnHub.
Drugs influenced by the WDR35 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choices, so any concerns about medicines, side effects, or your general health are best discussed with your doctor or pharmacist.