The WDR62 gene helps guide early brain growth, especially how nerve cells divide and move into place. When it does not work properly, a baby may be born with a smaller head size and changes in brain structure that can affect learning, movement, and seizures. This gene plays an important role in building the brain’s outer layer during pregnancy. Pathogenic variants in both copies of the WDR62 gene are linked to a genetic condition called primary microcephaly.
What is a gene?
Genes are sections of DNA that carry instructions your cells use to make molecules or regulate activities in the body. Some genes provide the directions for producing proteins, the parts of cells that do the work. Others mainly control when certain processes happen, where they happen, and how active they are. Taken together, genes affect how the body develops and works, and they can also influence how you respond to food, stress, or medications. For a deeper look at this topic, you can find more in the LearnHub.
Overview
WDR62Gene function
What if the gene works
The WDR62 gene helps early brain cells divide in an organized way during pregnancy. This supports normal growth of the cerebral cortex, the part of the brain involved in thinking, movement, and sensation.
Risk
What if the gene does not work
Variants in the WDR62 gene can disrupt brain development, often leading to a small head, developmental delay, and seizures. Effects range from milder learning difficulties to more marked brain differences, with earlier and more severe symptoms in some people.
Treatment
What does that mean for your treatment
No WDR62-specific treatment or drug-selection approach is currently established for pathogenic variants in the WDR62 gene. Care is symptom-based, using standard treatments such as seizure medicines and developmental supports when needed, and research mainly uses the WDR62 gene to better understand brain development rather than to guide a specific therapy.
Conditions associated with WDR62
Gene function
What if the gene works
Many cells use the WDR62 gene while they are getting ready to divide. Inside your cells, the WDR62 gene helps organize the machinery used during cell division. This is especially important in the developing brain, where new nerve cells need a steady supply of precursor cells.
The WDR62 gene helps cells move through division in an orderly way. It gathers where the cell builds the machinery that separates copied DNA into two new cells.
Its protein helps organize the spindle, the set of fibers that pulls chromosomes apart. It also helps keep this structure positioned correctly as the cell divides.
During early brain development, the WDR62 gene supports the repeated division of nerve precursor cells. This is part of normal WDR62 gene function during early brain development.
What is a variant?
A genetic variant is a small change in a gene’s DNA sequence. These changes are common and help shape normal human differences, such as appearance, metabolism, or how the body responds to environmental influences. Many have no noticeable effect and are simply part of natural genetic variation. In some cases, though, a variant can change how a gene functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
WDR62 gene variants affect brain development by making the protein too short, unstable, or unable to reach the cell structures that guide cell division. This can disrupt the timing and direction of division in developing nerve cells. Milder variants may leave some activity, while more severe variants can greatly reduce or stop it, which often relates to earlier and more marked WDR62-related changes in brain growth and structure.
How variants are linked to conditions
Pathogenic variants in the WDR62 gene cause an inherited condition that mainly affects brain growth and development, most often primary microcephaly. Many people with WDR62-related conditions also have developmental delay or intellectual disability, and some have seizures or brain changes seen on scans, such as polymicrogyria or pachygyria. WDR62 gene variants linked to conditions are usually inherited in an autosomal recessive pattern, meaning both copies are affected.
A variant is not necessarily a diagnosis
Genetic variants are a usual feature of human biology and are widespread in the general population. Most do not directly affect health and instead reflect normal human variation. For 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 some situations, though, one well described variant in a particular gene is enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For WDR62, risk is mostly tied to inheritance rather than lifestyle. A child’s chance of being born with a WDR62-related brain growth condition is higher when both parents carry a harmful WDR62 change, and this can be more likely in closely related parents. There is not enough evidence to say that diet, exercise, or other everyday habits change this genetic risk.
Inheritance of WDR62 variants
WDR62-related conditions are inherited in an autosomal recessive pattern. This means a child usually inherits one WDR62 variant from each parent, and the parents are often healthy carriers. When both parents carry a variant in the WDR62 gene, each pregnancy has a 25% chance of being affected, a 50% chance of producing a carrier child, and a 25% chance of producing a child without the familial variants. In families asking how WDR62 variants are inherited, this pattern means boys and girls are affected at similar rates.
What does my WDR62 result mean for my family?
For families, a WDR62 result most often matters in a recessive way, which means parents may be healthy carriers without knowing it. Brothers and sisters could also be carriers, and in some families another child may also be affected. Close relatives may want to learn whether the same gene change runs in the family, especially when there is a history of a small head size, developmental delay, or brain development differences.
Genetic information
Genetic testing
How you find out about variants
To find changes in the WDR62 gene, doctors use WDR62 genetic testing, usually on a blood or saliva sample. A lab reads the gene’s DNA code to look for variants and reports whether a variant helps explain a person’s condition or is unlikely to be relevant.
When should I consider getting a genetic test?
When a baby or child has a very small head size, delayed development, seizures, or brain changes seen on a scan, testing may include the WDR62 gene. It can also be worth considering if there is a family history of a similar condition or previous affected children.
A genetic result is only one part of your health story
A genetic result can provide valuable insight, but how much it explains varies with the condition and the type of variant involved. Many other factors, including lifestyle, environment, age, and medical history, influence how the body works over time. For some conditions, especially those shaped 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 offer a clear answer. In areas such as medication response, genetic results can also help put individual experiences in context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how your body absorbs, breaks down, or responds to medicines. This helps explain why the same treatment works well for one person, seems weaker for another, or causes more side effects in someone else. These differences are common and can influence both how effective a medication feels and how sensitive a person is to it.
What is Pharmacogenetics?
Pharmacogenetics looks at how differences in a person’s genes can affect their response to medications. By examining connections between genes and drugs, it helps explain why the same treatment may work differently from one person to another. For many medicines, genes can influence how strongly a drug works or how the body handles it. This information can support treatment decisions that are more informed and more individualized. You can learn more about this topic in the LearnHub.
Drugs influenced by the WDR62 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in how medicines work, so questions about side effects, treatment choices, or changes in your health are best discussed with your doctor or pharmacist. Seek medical advice if a medicine is not working as expected, causes new symptoms, or you are worried about how it fits with your overall health.
History
WDR62 entered the medical literature in the early 2010s, when researchers studying families with inherited small head size and differences in brain development identified disease causing variants in this gene. This work helped expand the list of genes linked to primary microcephaly, a group of conditions that had already pointed scientists toward early brain growth. Building on this early work, scientists uncovered more about the gene by comparing affected families from different parts of the world. As additional cases were reported, doctors gained a clearer picture of the range of features linked to WDR62 variants. Today, WDR62 is recognized as one of the established genes involved in inherited forms of abnormal brain development.