The IFT27 gene helps cells build and use cilia, which are tiny antenna-like structures that sense signals and support normal development. This gene plays an important role in how cells handle signaling in organs such as the eyes, kidneys, and brain. If the gene does not work properly, cilia may not function as they should, and some people develop a form of Bardet-Biedl syndrome. This can include progressive vision loss, weight gain, kidney problems, and extra fingers or toes in some people.
What is a gene?
Genes are sections of DNA that carry instructions your cells use to make molecules or manage activities in the body. Some genes hold the information needed to produce proteins, which do much of the work inside cells. Other genes mainly guide when certain processes happen, where they take place, 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 medicines. For a closer look at this topic, you can find more in LearnHub.
Overview
IFT27Gene function
What if the gene works
The IFT27 gene helps cells build and maintain cilia, the tiny hairlike structures that sense signals. Its protein also helps move materials within cilia, supporting normal cell communication and development.
Risk
What if the gene does not work
More disruptive variants in the IFT27 gene can cause Bardet-Biedl syndrome, which often affects vision, weight, kidney development, extra fingers or toes, and learning or developmental progress. Milder variants may lead to a less pronounced pattern.
Treatment
What does that mean for your treatment
For people with pathogenic variants in both copies of the IFT27 gene causing Bardet-Biedl syndrome, treatment can include setmelanotide for obesity related to BBS in eligible adults and children age 6 years and older. An IFT27-related diagnosis can help identify this BBS-specific drug option. Other care is usually guided by the person’s symptoms rather than by the IFT27 gene itself.
Conditions associated with IFT27
Gene function
What if the gene works
Many cells use tiny hairlike structures called cilia as built in antennae. The IFT27 gene helps these structures form and keeps traffic moving inside them. Understanding what the IFT27 gene does in the body helps explain how cells sense signals and coordinate normal growth.
The IFT27 gene helps cells assemble cilia, which are tiny structures that act like antennae on the cell surface. It supports the steady delivery of parts needed to build and maintain these cell sensors.
Inside cilia, IFT27 helps move proteins to the right place at the right time. This organized transport lets the cilium keep working as a communication hub for the cell.
This gene supports cell signaling that depends on healthy cilia, including messages that help guide growth and how tissues take shape. When the IFT27 gene is active, cells can process these outside cues more smoothly.
What is a variant?
A genetic variant is a minor change 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 have any noticeable effect and are simply part of natural genetic variation. Sometimes, though, a variant changes how a gene works more significantly and can contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the IFT27 gene can lower the amount of IFT27 protein, make it less stable, or change how it acts as a small molecular switch inside cilia, the hair-like structures cells use for signaling. This is how IFT27 gene variants affect cilia transport and related signaling between parts of the cell. Milder variants may leave some activity, while more severe variants can more strongly disrupt protein partners and may be linked to earlier or more noticeable Bardet-Biedl syndrome features.
How variants are linked to conditions
Disease-causing variants in both copies of the IFT27 gene cause Bardet-Biedl syndrome type 19. In this IFT27 gene Bardet-Biedl syndrome link, people may have progressive vision loss, extra fingers or toes, kidney involvement, weight gain, and learning or developmental differences. This is a rare inherited condition, and features can vary from one person to another.
A variant is not necessarily a diagnosis
Genetic variants are a usual part of human biology and are common across the general population. Most do not have a direct effect on health and instead represent natural human variation. For many genes, carrying a variant associated with a condition suggests a possible link rather than a confirmed diagnosis, especially when more than one gene and environmental factors are involved. In some situations, though, a single well characterized variant in a specific gene may be enough to confirm a 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 risk related to the IFT27 gene itself. For conditions linked to IFT27, risk is mainly shaped by the genetic change a person inherits rather than by lifestyle or everyday exposures. Anyone concerned about personal or family risk should speak with a doctor or genetic counselor.
Inheritance of IFT27 variants
IFT27-related conditions are inherited in an autosomal recessive pattern. In practical terms, inheritance of the IFT27 gene variants usually means a person inherits one altered copy from each parent. Parents who each carry one variant are usually unaffected, and with each pregnancy there is a 25% chance the child will inherit both altered copies, a 50% chance the child will be a carrier, and a 25% chance the child will inherit neither altered copy. This pattern is the one linked to the well-established IFT27-related condition known as Bardet-Biedl syndrome.
What does my IFT27 result mean for my family?
Changes in the IFT27 gene are linked to a rare inherited condition in a recessive pattern. For family members, this usually means parents may be healthy carriers, and brothers or sisters could also be carriers or, less often, have the condition if they inherited the same gene change from both parents. 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
To find out whether you carry a change in the IFT27 gene, a lab can examine DNA from a blood sample or cheek swab with genetic testing for IFT27 variants. The test reads the gene’s code and compares it with the usual sequence to identify variants, which a genetics team interprets alongside symptoms and family history.
When should I consider getting a genetic test?
Consider testing for changes in the IFT27 gene if there is a personal or family history of Bardet-Biedl syndrome, especially with a pattern of early vision loss, extra fingers or toes, kidney problems, unusual weight gain, or learning and development differences. Testing may help confirm the cause and clarify whether relatives could also carry the same change.
A genetic result is only one part of your health story
Genetic results can provide useful insight, but what they can tell you varies with the condition and the kind of variant involved. How the body functions over time is also shaped by many factors, including lifestyle, environment, age, and medical history. For some conditions, particularly those affected by many genes, genetic information offers context rather than certainty and makes the most sense when viewed alongside the rest of a person’s care. In other situations, a genetic result can give a clear answer. In areas like medication response, genetic results may help put personal experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in genes can change how the body breaks down, moves, or responds to a drug, so the same treatment may work better for one person than for another. This kind of variation is common and can influence how much benefit someone gets or how sensitive they are to side effects.
What is Pharmacogenetics?
Pharmacogenetics examines how genetic differences can affect a person’s response to medications. By looking at links between genes and drugs, it helps explain why the same treatment may work differently from one person to another. For many medicines, genes influence both how the body processes a drug and how strongly that drug acts. This information can support more informed and more individualized treatment decisions. More on this topic is available in the LearnHub.
Drugs influenced by the IFT27 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medication choices, so general questions about medicines, side effects, or new symptoms are best discussed with your doctor or pharmacist.
History
IFT27 entered the genetics literature during early 2000s research on the cell’s tiny hairlike structures, called cilia, and the transport system that builds and maintains them. In recent decades, awareness of this gene’s role has grown as scientists mapped the intraflagellar transport machinery in greater detail. Early work in model organisms and human cells placed the IFT27 gene within the IFT-B group, helping researchers organize a complex set of cilia related genes. From these first observations, research expanded steadily as cilia biology became a major area of medical genetics. That growing body of work later connected the IFT27 gene with inherited conditions affecting development and vision, giving the gene a clearer place in clinical research.