The ADAM22 gene helps nerve cells connect and send signals properly in the brain. If it does not work as it should, a person may have seizures, developmental delay, movement or balance problems, and learning difficulties. This gene plays an important role in keeping brain signaling steady at synapses, the contact points between nerve cells. Pathogenic variants in the ADAM22 gene are linked to rare inherited conditions that affect early brain development.
What is a gene?
A gene is a stretch of DNA that carries instructions cells use to make molecules or manage processes in the body. Some genes provide the directions for building proteins, which do much of the work inside cells. Others are used mainly to regulate when certain processes happen, where they happen, and how active they are. Taken together, genes affect how the body grows and works, and they can also influence how you respond to food, stress, or medicines. For a deeper look at this topic, you can find more in the LearnHub.
Overview
ADAM22Gene function
What if the gene works
The ADAM22 gene helps nerve cells communicate by supporting stable connections between brain cells. Its protein is important for normal brain signaling involved in movement, learning, and steady electrical activity.
Risk
What if the gene does not work
More disruptive variants in the ADAM22 gene can lead to developmental and epileptic encephalopathy, often with seizures, delayed development, low muscle tone, and movement or balance problems. Milder variants may cause a later onset or fewer features.
Treatment
What does that mean for your treatment
No ADAM22-specific treatment or drug choice is currently established in clinical guidelines. Early laboratory research is exploring the LGI1-ADAM22 signaling pathway as a possible treatment target for epilepsy linked to the ADAM22 gene.
Gene function
What if the gene works
Clear thinking, movement, and sensation depend on nerve cells passing signals smoothly. The ADAM22 gene helps organize contact points between nerve cells, especially in the brain. Its protein acts like a docking partner on the cell surface, helping keep communication steady and well coordinated.
The ADAM22 gene makes a protein that sits on the surface of nerve cells. There, it serves as a docking point for partner proteins that help build orderly communication sites.
One of the main jobs of the ADAM22 gene is to help organize synapses, the places where nerve cells exchange signals. It links outside signals to internal support proteins, helping each connection stay stable and well arranged.
At brain connections that carry activating messages, the ADAM22 gene helps signals pass in a balanced, coordinated way. This is part of what the ADAM22 gene does in the brain during thinking, movement, and sensation.
Across the nervous system, the ADAM22 gene helps nerve cell contacts mature and stay organized over time. This steady upkeep supports reliable communication in everyday brain and nerve activity.
What is a variant?
A genetic variant is a small alteration in the DNA sequence within a gene. These changes are common and are part of normal human diversity, including differences in appearance, metabolism, or the way the body responds to environmental influences. Many variants do not cause any noticeable effect and simply represent natural genetic variation. In some situations, though, a variant can change how a gene functions more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the ADAM22 gene can change how the protein folds, reaches the cell surface, or binds partner proteins at synapses, the junctions between nerve cells. In ADAM22 gene variant effects, milder missense changes may leave some activity, while more disruptive variants can greatly reduce or stop protein production. This range in residual function often matches the clinical spectrum, with less activity linked to earlier onset and more severe developmental and seizure features.
How variants are linked to conditions
Pathogenic variants in both copies of the ADAM22 gene cause a rare inherited condition called developmental and epileptic encephalopathy 88. ADAM22 gene variants are linked to epilepsy and developmental delay, often with seizures starting in infancy or early childhood. Some children also have low muscle tone and balance or movement problems. Finding pathogenic variants in both copies can confirm the diagnosis.
A variant is not necessarily a diagnosis
Variants in genes are a normal and common part of human biology. Most have no direct effect on health and simply reflect natural differences among people. 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 also play a role. In some situations, though, a single well-characterized variant in a specific gene can be enough to confirm a diagnosis.
Are there things that can increase or change my risk?
For ADAM22, risk appears to depend mainly on the specific inherited gene changes, especially whether a child receives changes in both copies of the gene. There is not yet broadly confirmed evidence that lifestyle or environmental factors meaningfully change this risk. Anyone worried about personal or family risk should speak with a doctor or genetic counselor.
Inheritance of ADAM22 variants
ADAM22 gene variants linked to known ADAM22-related conditions are inherited in an autosomal recessive pattern. This means a child usually inherits one ADAM22 gene variant from each parent, and the parents are often healthy carriers. When both parents carry one variant, each pregnancy has a 25% chance that the child will inherit both altered copies, a 50% chance that the child will be a carrier, and a 25% chance that the child will inherit neither variant. This is the main way ADAM22 variants are inherited in affected families.
What does my ADAM22 result mean for my family?
For families with a disease-causing change in the ADAM22 gene, the pattern is usually recessive, which means parents are often healthy carriers. Brothers and sisters may also be carriers, and in some families a sibling could also be affected. Other relatives may want to learn whether they carry the family’s ADAM22 change, especially when planning children.
Genetic information
Genetic testing
How you find out about variants
Testing for ADAM22 variants usually uses a blood or saliva sample, with DNA sequencing to read the ADAM22 gene and sometimes extra analysis to look for missing or extra pieces. ADAM22 genetic testing can confirm whether a pathogenic variant is present, often as part of an epilepsy or neurodevelopmental gene panel, exome, or genome test.
When should I consider getting a genetic test?
Genetic testing may be worth considering if a child has seizures that start early, developmental delays, or movement and learning problems without a clear cause, especially if similar symptoms run in the family. Testing the ADAM22 gene can help show whether a rare inherited condition is involved.
A genetic result is only one part of your health story
A genetic result can be informative, but how much it reveals depends on the condition and the type of variant present. Over time, many factors, including lifestyle, environment, age, and medical history, also shape how the body functions. In some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is best 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 personal experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how your body responds to medicines. 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. This helps explain why the same treatment works well for one person but less well for another, or why some people are more sensitive to side effects. These differences are common and are one part of why medication response varies from person to person.
What is Pharmacogenetics?
Pharmacogenetics examines the way genetic differences affect how people respond to medicines. By looking at links between genes and drugs, it helps explain why the same treatment can work differently from one person to another. For many medications, genes can influence both how strongly a drug works and how the body handles it. This information can support more informed, individualized treatment decisions. More detailed information on this topic is available in the LearnHub.
Drugs influenced by the ADAM22 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting medication response, so medication questions, unexpected side effects, or concerns about how treatment is working are best discussed with your doctor.