The FREM2 gene is active during early development and helps body tissues form stable connections, especially in the skin, eyes, kidneys, and limbs. The protein made by this gene helps your cells stay attached as organs take shape in the womb. If the gene does not work properly, development can be disrupted and a baby may be born with features seen in Fraser syndrome, including skin webbing and differences affecting the eyes, fingers or toes, kidneys, or genitals. FREM2 is usually discussed in genetics clinics rather than in popular media.
What is a gene?
Genes are stretches of DNA that give your cells instructions for making molecules or managing processes in the body. Some genes carry the directions for producing proteins, the parts of cells that do the work. Others mainly regulate when certain processes happen, where they happen, and how active they are. Together, genes affect how the body develops and functions, and they can also shape how you respond to food, stress, or medications. To explore this topic in more detail, you can learn more in the LearnHub.
Overview
FREM2Gene function
What if the gene works
The FREM2 gene helps tissues stick together as a baby develops. Its protein supports the thin layer that anchors cells, especially in the skin, eyes, and urinary system.
Risk
What if the gene does not work
More disruptive variants in the FREM2 gene can cause Fraser syndrome, with eye, skin, finger or toe, kidney, and genital differences present from birth. Milder variants may lead to a wider range of features and severity.
Treatment
What does that mean for your treatment
At present, no FREM2-specific treatment or drug selection approach is established; care is based on a person’s clinical needs rather than the FREM2 variant itself.
Conditions associated with FREM2
Gene function
What if the gene works
Your cells use the FREM2 gene to make a protein that sits just outside cells in a thin support layer. This protein helps nearby tissue layers stay attached and organized. It is especially important while the body is forming before birth. Understanding the FREM2 gene's function helps explain how growing tissues keep their shape and connections.
The FREM2 gene helps make a protein that sits in the support layer beneath cells. There, it helps upper tissue layers stay attached to the deeper tissue below.
FREM2 becomes part of the material outside cells that gives tissues structure and grip. This helps create a steady surface where neighboring cells and tissue layers can connect.
During early development, the protein from the FREM2 gene helps tissues keep their shape as they grow and fold. It works with partner proteins in the same support layer to guide orderly tissue building.
What is a variant?
A genetic variant is a minor change in a gene’s DNA sequence. These changes are common and help explain normal differences among people, including appearance, metabolism, and the way the body reacts to environmental influences. Many variants do not have any noticeable effect and are part of natural genetic variation. Sometimes, though, a variant changes how a gene works more significantly and may contribute to or cause a genetic condition.
Genetic variants
What if the gene does not work
Variants in the FREM2 gene often weaken or eliminate the FREM2 protein, so it may not keep its usual shape, reach the support layer beneath developing tissues, or interact well with partner proteins there. This helps explain how FREM2 gene variants affect protein function and why Fraser syndrome can vary. Some variants leave partial activity, while more severe variants can stop protein production, which may contribute to earlier or broader Fraser syndrome features.
How variants are linked to conditions
Pathogenic variants in the FREM2 gene cause Fraser syndrome, a rare inherited condition that can affect eye formation, the skin between the fingers or toes, and the kidneys or genital tract. In medical genetics, FREM2 gene variants linked to Fraser syndrome are the main established association. Some people with FREM2-related Fraser syndrome also have airway, urinary tract, or other birth differences, with severity varying from person to person.
A variant is not necessarily a diagnosis
Genetic variants are a usual part of human biology and are widespread in the general population. Most do not directly affect health and simply contribute to natural human diversity. For many genes, having a variant associated with a condition points to a possible link rather than a definitive diagnosis, especially when multiple genes and environmental factors 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 FREM2, risk is mainly shaped by inheritance rather than lifestyle. A child’s chance of having a FREM2-related condition is higher when both biological parents carry a harmful FREM2 change, and this can be more likely in families with a known history of the condition or in relatives having children together.
Inheritance of FREM2 variants
FREM2-related conditions are inherited in an autosomal recessive pattern. This means a child usually inherits one altered copy of the FREM2 gene from each parent, and parents who each carry one variant are typically unaffected themselves. When both parents are carriers, each pregnancy has a 25% chance of the child inheriting both variants, a 50% chance of being a carrier, and a 25% chance of inheriting neither variant. In practical terms, how FREM2 variants are inherited usually follows this two-carrier pattern within a family.
What does my FREM2 result mean for my family?
For families with a disease-causing change in the FREM2 gene, close relatives may also be carriers even if they do not have any health problems. Brothers and sisters may have a chance of being affected or of carrying the same gene change, and other relatives may also carry it. This can matter for family planning and for understanding whether the condition may appear again in the family.
Genetic information
Genetic testing
How you find out about variants
To look for changes in the FREM2 gene, doctors use genetic testing on a blood or saliva sample. Genetic testing for FREM2 variants reads the DNA sequence of the gene, often as part of a multi gene panel, and compares any variant with known evidence to classify it as linked to a condition, likely benign, or uncertain.
When should I consider getting a genetic test?
Consider FREM2 genetic testing when a baby or fetus has a pattern of birth differences linked with Fraser syndrome, such as eyes that did not form normally, fused fingers or toes, or kidney and urinary tract problems. Testing may also help if this condition runs in the family or after a previous affected pregnancy.
A genetic result is only one part of your health story
A genetic result can be informative, but how much it explains varies by the condition and the specific kind of variant. Many factors, including lifestyle, environment, age, and medical history, also shape how the body functions over time. In some conditions, especially those influenced by many genes, genetic information provides context rather than certainty and is best viewed alongside other parts of care. In other situations, a genetic result can offer a clear answer. In areas like medication response, genetic results may also help put individual experiences into context.
Pharmacogenetics
How variants shape your response to medicine
Genetic variation can affect how people respond to medicines. Small differences in DNA can change how the body breaks down, moves, or responds to a drug, so the same treatment may work well for one person but less well for another. These differences are common and can influence how much benefit someone gets from a medicine or how sensitive they are to side effects.
What is Pharmacogenetics?
Pharmacogenetics examines the ways genetic differences shape how people respond to medicines. It focuses on links between genes and medications to help explain why the same treatment can affect one person differently from another. With many drugs, genes influence both how strong the medication’s effects are and how the body handles it. This information can support treatment choices that are more informed and more tailored to the individual. More detail on this subject is available in the LearnHub.
Drugs influenced by the FREM2 gene
When should I seek medical advice?
There is not yet a broadly confirmed role for this gene in guiding medicine choices or predicting side effects. If you have concerns about symptoms, a health condition, or how a medicine is affecting you, talk with your doctor or pharmacist.