The IFT122 gene helps build and maintain cilia, the tiny hair-like parts of cells that help tissues grow, sense signals, and move materials where they need to go. This gene plays an important role in early development and in the normal function of organs such as the kidneys, liver, eyes, and skeleton. If the IFT122 gene does not work properly, cilia may not function well, which can lead to a genetic condition affecting growth and several body systems. Some people with harmful variants in the IFT122 gene have short stature, bone changes, vision problems, or kidney and liver involvement.
What is a gene?
Genes are stretches of DNA that carry instructions your cells use to make molecules or regulate processes in the body. Some genes provide the directions for producing proteins, the working parts of cells. Others mainly control when certain processes happen, where they take place, and how strongly they run. Together, genes affect how the body develops and works, and they can 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
IFT122Gene function
What if the gene works
The IFT122 gene helps cells build and maintain cilia, tiny structures that sense signals. This supports normal growth and the healthy function of organs including the eyes, kidneys, and bones.
Risk
What if the gene does not work
Variants in the IFT122 gene can cause a ciliopathy that often affects bone growth, facial development, hair, teeth, and sometimes the kidneys, liver, or vision. Milder and more severe variants can change when features appear and how pronounced they are.
Treatment
What does that mean for your treatment
For people with a pathogenic variant in the IFT122 gene, no IFT122-specific treatment or drug choice is currently established; care is supportive and guided by the person's symptoms and the organs involved.
Conditions associated with IFT122
Gene function
What if the gene works
Many cells use a tiny structure called a cilium to sense messages from their surroundings. The IFT122 gene helps these structures form, move supplies, and stay organized. This is a key part of how the IFT122 gene helps cells build and maintain cilia for everyday communication.
In many cells, the IFT122 gene helps build and maintain cilia, tiny structures on the cell surface that act like antennas. These structures help cells sense their surroundings and coordinate everyday signals.
Inside cilia, the IFT122 gene helps move used proteins and other cargo from the tip back to the base. This return trip supports cilia upkeep and helps the structure stay ready for ongoing cell work.
This gene helps place and recycle selected proteins inside cilia. Keeping the right proteins in the right place supports clear cell signaling.
What is a variant?
Genetic variants are small differences in a gene’s DNA sequence. These changes are common and help shape normal human diversity, including differences in appearance, metabolism, and the way the body responds to environmental influences. Many variants do not cause any noticeable effect and simply reflect natural genetic variation. In some cases, though, a variant changes how a gene functions more substantially and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the IFT122 gene can alter the protein’s shape, stability, or amount, disrupting transport inside cilia, the tiny structures on cells that help coordinate growth signals. Understanding how IFT122 gene variants affect cilia transport helps explain why milder variants may leave some activity, while more severe variants can greatly reduce or stop it. In people with an IFT122-related cilia condition, this difference in functional impact can influence how early features appear and how many parts of the body are affected.
How variants are linked to conditions
Pathogenic variants in the IFT122 gene cause cranioectodermal dysplasia, also called Sensenbrenner syndrome, a rare inherited condition. In this well-established IFT122 gene condition, people may have short stature, a narrow chest, distinctive hair, nail, or tooth changes, and kidney, liver, or vision problems. The features can vary from person to person, even within the same family.
A variant is not necessarily a diagnosis
Genetic variants are a routine part of human biology and are common across the general population. Most do not have a direct effect on health and simply reflect natural human diversity. For many genes, carrying a variant associated with a condition indicates a possible link rather than a definite diagnosis, especially when multiple genes and environmental factors also play a role. In some situations, 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?
For IFT122, risk is mainly shaped by inheritance rather than lifestyle. A child is more likely to be born with an IFT122-related condition when both biological parents carry a harmful change in this gene, and there is not enough evidence to say that diet, exercise, or other day-to-day factors change that risk.
Inheritance of IFT122 variants
IFT122-related conditions are inherited in an autosomal recessive pattern. This means a child usually inherits one altered copy of the IFT122 gene from each parent, and the parents are often healthy carriers. When both parents carry an IFT122 variant, each pregnancy has a 25% chance of resulting in a child with the condition, a 50% chance of a child who is also a carrier, and a 25% chance of a child who inherits neither variant. In families looking into how IFT122 variants are inherited, this pattern means boys and girls are affected equally.
What does my IFT122 result mean for my family?
Changes in the IFT122 gene are linked to rare inherited conditions that usually run in families in a recessive pattern. For family members, this often means parents may be healthy carriers, and brothers, sisters, or future children could also carry the same gene change or be affected. Close relatives may want to learn whether the same result is present in the family.
Genetic information
Genetic testing
How you find out about variants
Genetic testing for IFT122 variants usually uses a blood or saliva sample. A lab reads the DNA sequence of the IFT122 gene, often as part of a multigene panel or exome test, to look for changes that may help explain a person’s features or confirm a suspected genetic condition.
When should I consider getting a genetic test?
Genetic testing for the IFT122 gene may be considered if a child has signs of a rare inherited condition affecting bone growth, the skull, teeth, hair, nails, or the kidneys, especially when similar problems run in the family. It can also help confirm the cause when a doctor already suspects one of these conditions.
A genetic result is only one part of your health story
A genetic result can provide useful insight, but how much it explains depends on the condition and on the type of variant involved. How the body functions over time is shaped by many factors, including lifestyle, environment, age, and medical history. In some conditions, especially those influenced by many genes, genetic information offers context rather than certainty and is most helpful when considered together with 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 your body handles medicines, so the same treatment may work well for one person but less well for another. Small differences in genes can change how a drug is absorbed, broken down, moved through the body, or how strongly it acts on its target. This is common and can influence how much benefit a person gets from a medicine or how sensitive they are to side effects. Other factors, such as age, liver and kidney function, and other medicines, also play a part.
What is Pharmacogenetics?
Pharmacogenetics examines how differences in a person’s genes affect the way medications work. By studying links between genes and drugs, it helps explain why the same treatment can have different effects in different people. 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 more informed and more tailored to the individual. More detailed information about this topic is available in the LearnHub.
Drugs influenced by the IFT122 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in predicting how medicines work, so questions about side effects, new prescriptions, or changes to your treatment are best discussed with your doctor.